Disease #01943 (LGMD2B (dystrophy, muscular, limb-girdle, type 2B (LGMD2B)), OMIM:253601)

Official abbreviation LGMD2B
Name dystrophy, muscular, limb-girdle, type 2B (LGMD2B)
OMIM ID 253601
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 27
Phenotype entries for this disease 28
Associated with 1 gene DYSF
Associated tissues -
Disease features -
Remarks -


Individuals

27 entries on 1 page. Showing entries 1 - 27.
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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) ALMS1, DYSF ALMS1, DYSF 3 2 Csilla Lazar
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), ALMS1, DYSF ALMS1, DYSF 3 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) DYSF DYSF 2 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) DYSF DYSF 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), DYSF DYSF 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), DYSF DYSF 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), DYSF DYSF 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), DYSF DYSF 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), DYSF DYSF 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), DYSF DYSF 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), DYSF DYSF 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), DYSF DYSF 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) DYSF DYSF 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), DYSF DYSF 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), DYSF DYSF 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) DYSF DYSF 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), DYSF DYSF 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) DYSF DYSF 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) DYSF DYSF 2 1 Pieter Klap
00301527 - - compound heterozygous patient M no Greece - 18y - - - LGMD2B - DYSF DYSF 2 1 Helen Latsoudis
00326804 - Journal: Charnay 2021 - F - France - - - - - LGMD2B Absent muscle fiber dysferlin HP:0030114, Elevated serum creatine kinase HP:0003236 DYSF DYSF 3 1 Svetlana Gorokhova
00326928 - Journal: Charnay 2021 - M yes France - - - - - LGMD2B Absent muscle fiber dysferlin HP:0030114 DYSF DYSF 1 2 Svetlana Gorokhova
00326988 - Journal: Charnay 2021 - M - France - - - - - LGMD2B Absent muscle fiber dysferlin HP:0030114 DYSF DYSF 3 1 Svetlana Gorokhova
00327046 - Journal: Charnay 2021 - F - France - - - - - LGMD2B Muscular dystrophy HP:0003560, Abnormal muscle fiber dysferlin HP:0030113 DYSF DYSF 2 1 Svetlana Gorokhova
00327048 - Journal: Charnay 2021 - F - - - - - - - LGMD2B Limb-girdle muscular dystrophy HP:0006785, Absent muscle fiber dysferlin HP:0030114 DYSF DYSF 2 1 Svetlana Gorokhova
00327391 - Journal: Charnay 2021 - M - France - - - - - LGMD2B Limb-girdle muscular dystrophy HP:0006785, Absent muscle fiber dysferlin HP:0030114 DYSF DYSF 3 1 Svetlana Gorokhova
00361916 Pat4 PubMed: Saat 2021 - M yes Turkey - - 0 - - LGMD2B Muscle weakness HP:0001324 - DYSF 1 1 Ibrahim Sahin
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