All individuals with variants in gene DYSF

2488 entries on 25 pages. Showing entries 1 - 100.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00000288 - {PMID12442266:Mäkelä et al 2002} - - - Canada - - - - - DIAR-1 - 1 1 Ivo F.A.C. Fokkema
00046458 FamPatIII4 PubMed: Lazar 2015; Journal: Lazar 2015 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/sister F - Israel Arab, Muslim - 0 - - CORD, LGMD2B muscular dystrophy (HP:0003560), elevated serum creatine phosphokinase (HP:0003236), lower limb muscle weakness (HP:0007340), visual loss (HP:0000572), photophobia (HP:0000613), pendular nystagmus (HP:0012043), rod-cone dystrophy (HP:0000510) 2 2 Csilla Lazar
00073140 26444858 A-1 PubMed: Petersen 2015, Journal: Petersen 2015 - M - Switzerland - >58y - - - ? Steppage gait (HP:0003376), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675), Decreased pulmonary function (HP:0005952), 2 1 Pieter Klap
00073143 26444858 A-2 PubMed: Petersen 2015, Journal: Petersen 2015 - F - Switzerland - >54y - - - ? Difficulty walking on tiptoes (HP:0002355), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675), EMG: myopathic tibialis anterior muscle (HP:0003458), EMG abnormality fibrillations (HP:0003457) 2 1 Pieter Klap
00073144 26444858 B-3 PubMed: Petersen 2015, Journal: Petersen 2015 - F - Switzerland - >33y - - - ? Difficulty running (HP:0009046), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675), EMG: myopathic Biceps brachii muscle (HP:0003458) 2 1 Pieter Klap
00073145 26444858 C-4 PubMed: Petersen 2015, Journal: Petersen 2015 - M - Switzerland - >27y - - - ? Difficulty running (HP:0009046), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675), EMG: myopathic Vastus lateralis muscle (HP:0003458) 1 1 Pieter Klap
00073147 26444858 C-5 PubMed: Petersen 2015, Journal: Petersen 2015 - F - Switzerland - >24y - - - ? Difficulty walking on tiptoes (HP:0002355), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675), EMG: myopathic tibialis anterior muscle (HP:0003458) 1 1 Pieter Klap
00073148 26444858 C-6 PubMed: Petersen 2015, Journal: Petersen 2015 - F - Switzerland - >31y - - - ? - 2 1 Pieter Klap
00073150 26444858 C-7 PubMed: Petersen 2015, Journal: Petersen 2015 - M - Switzerland - >16y - - - ? Difficulty toe walking (HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675), EMG: myopathic Vastus lateralis muscle (HP:0003458) 1 1 Pieter Klap
00073151 26444858 C-8 PubMed: Petersen 2015, Journal: Petersen 2015 - F - Switzerland - >54y - - - ? Lower limb muscle weakness (HP:0007340), EMG: myopathic abnormalities (HP:0003458) 1 1 Pieter Klap
00073152 26444858 D-9 PubMed: Petersen 2015, Journal: Petersen 2015 - F - Switzerland - >45y - - - ? Gowers sign (HP:0003391), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), EMG: myopathic Vastus lateralis muscle (HP:0003458), EMG abnormality fibrillations (HP:0003457) 1 1 Pieter Klap
00073153 26444858 D-10 PubMed: Petersen 2015, Journal: Petersen 2015 - F - Switzerland - >46y - - - ? - 1 1 Pieter Klap
00073154 26444858 D-11 PubMed: Petersen 2015, Journal: Petersen 2015 - M - Switzerland - >48y - - - ? - 1 1 Pieter Klap
00073155 26444858 E-12 PubMed: Petersen 2015, Journal: Petersen 2015 - M - Switzerland - >28y - - - ? Difficulty jumping (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675) 1 1 Pieter Klap
00073157 26444858 F-13 PubMed: Petersen 2015, Journal: Petersen 2015 - M - Switzerland - >22y - - - ? Lower limb muscle weakness (HP:0007340), Elevated serum creatine phosphokinase (HP:0003236), normal echocardiogram (-HP:0003116), no arrhythmia (-HP:0011675), EMG: myopathic Gastrocnemius muscle (HP:0003458), EMG abnormality fibrillations (HP:0003457) 1 1 Pieter Klap
00073158 8597/8601 PubMed: Dominov 2014, Journal: Dominov 2014, PubMed: Nallamilli 2018 3-generation family, 2 affected brothers M no United States - >20y 0 - - ? Difficulty walking (HP:0002355), Elevated serum creatine phosphokinase (HP:0003236), Lower limb amyotrophy (HP:0007210), Lower limb muscle weakness (HP:0007340), 2 10 Pieter Klap
00073166 26077327-PatIII4 PubMed: Lazar 2015, Journal: Lazar 2015 brother M yes Palestine - - 0 - - ALMS, LGMD2B muscular dystrophy (HP:0003560), elevated serum creatine phosphokinase (HP:0003236), lower limb muscle weakness (HP:0007340), Visual loss (HP:0000572), Photophobia (HP:0000613), Pendular nystagmus (HP:0012043), 2 1 Pieter Klap
00073167 25868377 NP1 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >26y - - - ? Difficulty running (HP:0009046), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073172 25868377 NP3 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >50y - - - ? Difficulty to rise from floor (HP:0004302), Limb-girdle muscular dystrophy (HP:0006785), Muscle weakness (HP:0001324), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 3 1 Pieter Klap
00073173 25868377 NP4 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >19y - - - ? Difficulty climbing stairs (HP:0003551), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073174 25868377 NP5 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >43y - - - ? Difficulty climbing stairs (HP:0003551), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073175 25868377 NP6 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >46y - - - ? Difficulty climbing stairs (HP:0003551), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073176 25868377 NP8 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >40y - - - ? Difficulty to rise from floor (HP:0004302), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 3 1 Pieter Klap
00073177 25868377 NP9 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >14y - - - ? Difficulty to rise from floor (HP:0004302), Limb-girdle muscular dystrophy (HP:0006785), myositis (HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073178 25868377 NP10 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >26y - - - ? Proximal muscle weakness in upper limbs (HP:0008997), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073179 25868377 NP11 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >33y - - - MMD no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073180 25868377 NP12 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >30y - - - LGMD2B Difficulty to rise from floor (HP:0004302), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073181 25868377 NP13 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >38y - - - LGMD no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073182 25868377 NP14 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >45y - - - LGMD no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073183 25868377 NP15 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >33y - - - LGMD myositis (HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073185 25868377 NP16 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >22y - - - MMD myositis (HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 3 1 Pieter Klap
00073188 25868377 NP18 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >20y - - - ? myositis (HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073193 25868377 NP19 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >50y - - - MMD no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073194 25868377 NP20 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >43y - - - MMD no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073195 25868377 NP21 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >22y - - - MMD no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073196 25868377 NP22 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >34y - - - LGMD no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073197 25868377 NP23 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >34y - - - MMD no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073198 25868377 NP24 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >40y - - - LGMD no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073199 25868377 NP25 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >26y - - - LGMD no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 3 1 Pieter Klap
00073200 25868377 NP26 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >21y - - - ? no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073201 25868377 NP27 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >37y - - - LGMD no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 1 1 Pieter Klap
00073202 25868377 NP28 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >38y - - - ? no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073203 25868377 NP29 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >28y - - - LGMD no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073204 25868377 NP30 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >38y - - - MMD no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073205 25868377 NP32 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >17y - - - MMD no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073206 23254335 pt.1 PubMed: Zhao 2013, Journal: Zhao 2013 - F - China - >26y - - - MMD Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115) 1 1 Pieter Klap
00073296 23254335 pt.2 PubMed: Zhao 2013, Journal: Zhao 2013 - M - China - >19y - - - MMD Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115) 1 1 Pieter Klap
00073297 23254335 pt.3 PubMed: Zhao 2013, Journal: Zhao 2013 - M - China - >27y - - - LGMD Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115) 1 1 Pieter Klap
00073298 23254335 pt.4 PubMed: Zhao 2013, Journal: Zhao 2013 - M - China - >21y - - - MMD Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115) 2 1 Pieter Klap
00073299 23254335 pt.5 PubMed: Zhao 2013, Journal: Zhao 2013 - M - China - >19y - - - LGMD Elevated serum creatine phosphokinase (HP:0003236), myositis (HP:0100614), Reduced muscle fiber dysferlin (HP:0030115) 1 1 Pieter Klap
00073300 23254335 pt.6 PubMed: Zhao 2013, Journal: Zhao 2013 - M - China - >15y - - - LGMD Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115) 1 1 Pieter Klap
00073301 23254335 pt.7 PubMed: Zhao 2013, Journal: Zhao 2013 - M - China - >23y - - - MMD Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115) 1 1 Pieter Klap
00073302 23254335 pt.8 PubMed: Zhao 2013, Journal: Zhao 2013 - F - China - >43y - - - ? Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115) 1 1 Pieter Klap
00073303 23519732 P1 PubMed: Nilsson 2013, Journal: Nilsson 2013 - F - (Canada) Caucasian >27y - - - MMD Proximal muscle weakness (HP:0003701), Elevated serum creatine phosphokinase (HP:0003236), no inflammatory myopathy (-HP:0009071), Lower limb amyotrophy (HP:0007210), proximal muscle weakness (HP:0003701), 2 1 Pieter Klap
00073304 23519732 P2 PubMed: Nilsson 2013, Journal: Nilsson 2013 - M - (Canada) Caucasian >54y - - - MMD Elevated serum creatine phosphokinase (HP:0003236), Lower limb amyotrophy (HP:0007210), Myopathy (HP:0003198), Difficulty walking (HP:0002355), 2 1 Pieter Klap
00073305 20535123 pt.I PubMed: Santos 2010, Journal: Santos 2010 - M no (Portugal) - >34y - - - ? Difficulty running (HP:0009046), Proximal tetraparesis (HP:0002273), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 1 1 Pieter Klap
00073306 20535123 pt.II PubMed: Santos 2010, Journal: Santos 2010 - M no (Portugal) - >48y - - - ? Lower limb muscle weakness (HP:0007340), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 1 1 Pieter Klap
00073307 20535123 pt.III PubMed: Santos 2010, Journal: Santos 2010 - M ? (Portugal) - >23y - - - ? Difficulty running (HP:0009046), Proximal muscle weakness in lower limbs (HP:0008994), Calf muscle pseudohypertrophy (HP:0003707), Elevated serum creatine phosphokinase (HP:0003236), Reduced muscle fiber dysferlin (HP:0030115) 2 1 Pieter Klap
00073630 20535123 pt.IV PubMed: Santos 2010, Journal: Santos 2010 - M yes (Portugal) - >19y - - - ? Fatigue (HP:0012378), Arrhythmia (HP:0011675), Proximal muscle weakness in lower limbs (HP:0008994), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 1 1 Pieter Klap
00073631 20535123 pt.V PubMed: Santos 2010, Journal: Santos 2010 - M yes (Portugal) - >30y - - - ? Difficulty walking on toes (HP:0001288), Distal lower limb muscle weakness (HP:0009053), Elevated serum creatine phosphokinase (HP:0003236) 1 1 Pieter Klap
00073632 20535123 pt.VI PubMed: Santos 2010, Journal: Santos 2010 - M yes (Portugal) - >25y - - - ? Difficulty running (HP:0009046), Difficulty climbing stairs (HP:0003551), Proximal muscle weakness in upper limbs (HP:0008997), Proximal muscle weakness in lower limbs (HP:0008994), Lower limb amyotrophy (HP:0007210), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114) 1 1 Pieter Klap
00073634 20535123 pt.VII PubMed: Santos 2010, Journal: Santos 2010 - M yes (Portugal) - >21y - - - ? Exercise-induced myalgia (HP:0003738), Proximal muscle weakness in lower limbs (HP:0008994), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114) 1 1 Pieter Klap
00073643 19493611 pt.1 PubMed: Liewluck 2009, Journal: Liewluck 2009 - M - Thailand - >24y - - - MMD Elevated serum creatine phosphokinase (HP:0003236), Difficulty running (HP:0009046), Ring fibers (HP:0100305), Muscle fiber necrosis (HP:0003713) 1 1 Pieter Klap
00073648 19493611 pt.2 PubMed: Liewluck 2009, Journal: Liewluck 2009 - M - Thailand - >20y - - - MMD - 1 1 Pieter Klap
00073653 19309282 pt.1 PubMed: Bevilacqua 2009, Journal: Bevilacqua 2009 - M yes Chile - >32y - - - MMD Lower limb amyotrophy (HP:0007210), inability to walk on tip-toes (HP:0004302), Gowers sign (HP:0003391), Areflexia of lower limbs (HP:0002522), Elevated serum creatine phosphokinase (HP:0003236), 1 1 Pieter Klap
00073654 19309282 pt.2 PubMed: Bevilacqua 2009, Journal: Bevilacqua 2009 - F no Chile - >29y - - - ? Difficulty walking (HP:0002355), inability to walk on tip-toes (HP:0004302), Difficulty running (HP:0009046), Difficulty climbing stairs (HP:0003551), Elevated serum creatine phosphokinase (HP:0003236) 2 1 Pieter Klap
00073655 19084402 pt.1 PubMed: Paradas 2009, Journal: Paradas 2009 - M no Spain Caucasian >05y - - - ? Motor delay (HP:0001270), Difficulty running (HP:0009046), Difficulty walking (HP:0002355), Difficulty climbing stairs (HP:0003551), Neck flexor weakness (HP:0003722), Pelvic girdle muscle weakness (HP:0003749), Gowers sign (HP:0003391), Elevated serum creatine phosphokinase after age 3 (HP:0003236), 1 1 Pieter Klap
00073656 19084402 pt.2 PubMed: Paradas 2009, Journal: Paradas 2009 - F no Spain - >02y - - - ? Motor delay (HP:0001270), Proximal muscle weakness in lower limbs (HP:0008994), Neck flexor weakness (HP:0003722), Difficulty standing (HP:0003698), Mildly elevated creatine phosphokinase (HP:0008180), 1 1 Pieter Klap
00073658 25574751 pt.1 PubMed: Szymanska 2014, Journal: Szymanska 2014 - F - (Poland) - >19y - - - LGMD Seizures (HP:0001250), Elevated hepatic transaminases (HP:0002910), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 2 1 Pieter Klap
00073659 25591676 F1-297-1-2 PubMed: Xi 2014, Journal: Xi 2014 - F - China - >26y - - - LGMD no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 1 1 Pieter Klap
00073660 25591676 F1-298-1-2 PubMed: Xi 2014, Journal: Xi 2014 - F yes China - >39y - - - LGMD no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to get up from a chair (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 1 1 Pieter Klap
00073661 25591676 F1-300-1-2 PubMed: Xi 2014, Journal: Xi 2014 - F - China - >24y - - - LGMD2B no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114) 1 1 Pieter Klap
00073662 25591676 F1-299-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M yes China - >34y - - - MMD no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Gait disturbance (HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 1 1 Pieter Klap
00073663 25591676 F1-329-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M yes China - >35y - - - MMD no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Muscle weakness (HP:0001324), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 1 1 Pieter Klap
00073666 25591676 F1-301-1-2 PubMed: Xi 2014, Journal: Xi 2014 - F - China - >36y - - - ? no scapular winging (-HP:0003691), able to stand on tiptoes (-HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114) 1 1 Pieter Klap
00073669 25591676 F1-303-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >41y - - - LGMD2B no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Difficulty walking (HP:0002355), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 2 1 Pieter Klap
00073671 25591676 F1-304-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >28y - - - LGMD2B no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 2 1 Pieter Klap
00073672 25591676 F1-305-1-2 PubMed: Xi 2014, Journal: Xi 2014 - F - China - >44y - - - LGMD2B no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Gait disturbance (HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 2 1 Pieter Klap
00073673 25591676 F1-306-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >29y - - - LGMD2B Scapular winging (HP:0003691), unable to stand on tiptoes (HP:0004302), Difficulty climbing stairs (HP:0003551), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 2 1 Pieter Klap
00073674 25591676 F1-307-1-2 PubMed: Xi 2014, Journal: Xi 2014 - F - China - >27y - - - LGMD2B no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Muscle weakness (HP:0001324), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 2 1 Pieter Klap
00073675 25591676 F1-330-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >49y - - - LGMD2B no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Difficulty walking (HP:0002355), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 2 1 Pieter Klap
00073676 25591676 F1-308-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >37y - - - LGMD2B no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 2 1 Pieter Klap
00073677 25591676 F1-309-1-2 PubMed: Xi 2014, Journal: Xi 2014 - F - China - >25y - - - LGMD2B no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Gowers sign (HP:0003391), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 2 1 Pieter Klap
00073678 25591676 F1-310-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >20y - - - LGMD2B no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Reduced muscle fiber dysferlin (HP:0030115) 2 1 Pieter Klap
00073679 25591676 F1-3251-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >30y - - - LGMD2B no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 2 1 Pieter Klap
00073680 25591676 F1-312-1-2 PubMed: Xi 2014, Journal: Xi 2014 - F - China - >27y - - - LGMD2B no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to get up from a chair (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), 2 1 Pieter Klap
00073741 25591676 F1-313-1-2 PubMed: Xi 2014, Journal: Xi 2014 - F - China - >31y - - - MMD no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Muscle weakness (HP:0001324), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), 2 1 Pieter Klap
00073742 25591676 F1-314-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - - - - - MMD no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Gait disturbance (HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), Reduced muscle fiber dysferlin (HP:0030115) 2 1 Pieter Klap
00073743 25591676 F1-315-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >31y - - - MMD no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Gait disturbance (HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114) 2 1 Pieter Klap
00073744 25591676 F1-316-1-2 PubMed: Xi 2014, Journal: Xi 2014 - F - China - >39y - - - MMD no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Muscle weakness (HP:0001324), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114) 2 1 Pieter Klap
00073745 25591676 F1-317-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >23y - - - MMD no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Muscle weakness (HP:0001324), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114) 2 1 Pieter Klap
00073746 25591676 F1-318-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >20y - - - ? no scapular winging (-HP:0003691), Gait disturbance (HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114) 2 1 Pieter Klap
00073747 25591676 F1-320-1-2 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >26y - - - ? no scapular winging (-HP:0003691), no gait disturbance (-HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114) 2 1 Pieter Klap
00073748 25591676 F1-321-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - - - - - ? no scapular winging (-HP:0003691), no gait disturbance (-HP:0001288), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114) 2 1 Pieter Klap
00073749 17129727 pt.1 PubMed: Diers 2007, Journal: Diers 2007 - F no (Germany) Caucasian >14y - - - LGMD2B Enlarged calf muscle (HP:00014300), Difficulty running (HP:0009046), Elevated serum creatine phosphokinase (HP:0003236), no arrhythmia (-HP:0011675), normal echocardiogram (-HP:0003116), Subcapsular cataract (HP:0000523), Reduced muscle fiber dysferlin (HP:0030115) 2 1 Pieter Klap
00073753 16705711 A.IV:1 PubMed: Wenzel 2006, Journal: Wenzel 2006 - M yes - Arabic Middle Eastern - - - - LGMD2B Pelvic girdle muscle weakness (HP:0003749), Inability to walk (HP:0002540), Lower limb amyotrophy (HP:0007210), no calf muscle hypertrophy (-HP:0008981), Reduced muscle fiber dysferlin (HP:0030115), 1 1 Pieter Klap
00073754 16705711 B.II:1 PubMed: Wenzel 2006, Journal: Wenzel 2006 - M - (Germany) - >38y - - - LGMD2B Difficulty climbing stairs (HP:0003551), Waddling gait (HP:0002515), Pelvic girdle muscle weakness (HP:0003749), Muscular dystrophy (HP:0003560), Absent muscle fiber dysferlin (HP:0030114) 2 1 Pieter Klap
00073755 16705711 B.II:3 PubMed: Wenzel 2006, Journal: Wenzel 2006 - F - (Germany) - >25y - - - LGMD2B Difficulty running (HP:0009046), Waddling gait (HP:0002515), Pelvic girdle muscle weakness (HP:0003749), Muscular dystrophy (HP:0003560), Absent muscle fiber dysferlin (HP:0030114) 2 1 Pieter Klap
00074346 - Fichna ESHG2016 P10.20 - - no Poland - - 0 - - GDD - 2 1 Johan den Dunnen
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