All individuals with variants in gene LAMA2

784 entries on 8 pages. Showing entries 1 - 100.
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00000012 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000017 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000018 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000036 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000039 - PubMed: Bell 2011 - - - - - - 0 - - ADPKD - 1 1 Global Variome, with Curator vacancy
00000040 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000048 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000049 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000054 - PubMed: Bell 2011 - - - - - - - - - ABL see paper; … 1 1 Global Variome, with Curator vacancy
00000057 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000069 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000071 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000075 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000090 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000092 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000099 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000100 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00036032 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036033 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036034 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036035 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036036 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036037 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036038 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036040 - - - - - Germany - - 0 - - MD - 1 1 Andreas Laner
00036041 77186 - - M ? Libya - - 0 - - MD, MDC, myopathy, mitochondrial , Muscular Dystrophy, no further information 2 1 Andreas Laner
00036042 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036043 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036044 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036045 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036046 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036047 - - - - - Germany - - 0 - - MD - 1 1 Andreas Laner
00036048 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036049 84038 - - F ? Germany - - 0 - - MDC polyneuropathy, asymptomatic leukoencephalopathy 1 1 Andreas Laner
00036050 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036051 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036052 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036053 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036054 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036055 - - - - - Germany - - 0 - - MDC - 1 1 Andreas Laner
00036057 102888 - - M ? Germany - - 0 - - MDC leukodystrophy (MRT), persistent CK elevation, delayed development (motor) 1 1 Andreas Laner
00054672 Pat51 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - >14y 0 - - MDC gross motor delay, contractures, nocturnal ventilation, MRI - cobblestone lissencephaly; CPK elevated (487-3260); IHC LAMA2; histology dystrophic 2 1 Sandra Cooper
00054676 Pat71 PubMed: O'Grady 2016 - M - Australia - >18y 0 - - MDC infantile onset, gross motor delay, walked at 4 years, contractures, spinal rigidity; CPK normal; IHC LAMA2; histology dystrophic 1 1 Sandra Cooper
00054677 Pat84 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >23y 0 - - MDC proximal weakness, mild scoliosis; CPK elevated (3195); IHC LAMA2; histology dystrophic 2 1 Sandra Cooper
00054681 Pat95 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >09y 0 - - MDC infantile hypotonia and weakness, arthrogryposis, congenital hip dislocation, gross motor delay, contractures; CPK elevated (2600); IHC LAMA2; histology dystrophic 2 1 Sandra Cooper
00054688 Pat112 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - >04y 0 - - MDC infantile hypotonia, arthrogryposis, gross motor delay, contractures; CPK elevated (1650); IHC LAMA2; histology dystrophic 2 1 Sandra Cooper
00054691 Pat117 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - >05y 0 - - MDC gross motor delay, standing at 4y; CPK elevated (1157) 1 1 Sandra Cooper
00054693 Pat123 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - >08y 0 - - MDC infantile hypotonia, congenital hip dysplasia, gross motor delay, sat age 2y, contractures, nocturnal hypoventilation, MRI - white matter signal abnormality; CPK elevated (2500); IHC LAMA2; histology dystrophic 2 1 Sandra Cooper
00088192 - PubMed: Harris 2017 - M no United Kingdom (Great Britain) - - 0 yes - MDC muscular dystrophy, due to partial LAMA2 deficiency 2 2 Elizabeth Harris
00102114 ? Subm. FMuntoni ESN - - - - - 0 - - ? - 1 1 Johan den Dunnen
00102115 09674786-Pat12 PubMed: Pegoraro 1998 contractures ankles, abnormal white matter, no seizures M - (United States) - - 0 - - MDC dystrophy, muscular, congenital; CPK: 4394; rolling on side-9m 2 1 Johan den Dunnen
00102116 07643867-Pat PubMed: Hayashi 1995 - F no Japan - 1y11m 0 - - MDC dystrophy, muscular, congenital; generalized hypotonia, no head control/sit, absent deep tendon reflexes CT-scan brain diffuse low density areas cerebral white matter, EMG myogenic patterns; died of pneumonia caused by respiratory deficit; CPK: 1214 U/L; delayed 2 1 Johan den Dunnen
00102117 11938437-pat? PubMed: Allamand 2002 - - - (France) - - 0 - - MDC dystrophy, muscular, congenital 2 1 Johan den Dunnen
00102118 ? Subm. FMuntoni ICSM - - - - - 0 - - ? - 1 1 Johan den Dunnen
00102119 11938437-pat? acc. to PubMed: Allamand 2002 - - - - - - 0 - - MDC dystrophy, muscular, congenital 2 1 Johan den Dunnen
00102120 11938437-pat? PubMed: Allamand 2002 PG - - (France) - - 0 - - MDC dystrophy, muscular, congenital 2 1 Johan den Dunnen
00102121 12552556-Pat2 PubMed: Tezak 2003, OMIM:var0010 - F - United States - >4y 0 - - MDC dystrophy, muscular, congenital; muscle weakness, hypotonia; 4y-contractures, no seizures; CPK: 2000 U/L; s10m 2 1 Johan den Dunnen
00102122 11938437-pat? PubMed: Allamand 2002 PG - - (France) - - 0 - - MDC dystrophy, muscular, congenital 2 1 Johan den Dunnen
00102123 11938437-PG PubMed: Allamand 2002 - - - (France) - - 0 - - MDC dystrophy, muscular, congenital 2 1 Johan den Dunnen
00102124 09674786-Pat7 PubMed: Pegoraro 1998 contractures ankles/knees/wrists/elbows, abnormal white matter, no seizures M - (United States) - - 0 - - MDC dystrophy, muscular, congenital; CPK: 4360; s24m 2 1 Johan den Dunnen
00102125 09541105-Fam490 - 2-generation family, affected son, unaffected carrier father M no - - - 0 - - MDC dystrophy, muscular, congenital 3 1 Johan den Dunnen
00102126 11369186-Pat1 PubMed: Hayashi 2001 - F - Japan - >6y 0 - - MDC dystrophy, muscular, congenital; MRI brain high intensity; CPK: 625-65900; s6y 2 1 Johan den Dunnen
00102127 ? Subm. FMuntoni ICSM - - - - - 0 - - ? - 1 1 Johan den Dunnen
00102128 19294599-Pat2 PubMed: Yuan 2008 - M no China - >5m 0 - - MDC dystrophy, muscular, congenital; delayed motor milestones, weakness/hypotonicity limb girdle muscles, bilateral talipes equinovarus, no respiratory/cardiac problems, EMG anterior tibial muscle myopathic changes, MRI brain high intensity bilateral white matter; CPK: 1339 U/L (n<150) 2 1 Rosário dos Santos
00102129 ? Subm. FMuntoni ICSM - - - - - 0 - - ? - 1 1 Johan den Dunnen
00102130 11938437-pat? PubMed: Allamand 2002 - - - (France) - - 0 - - MDC dystrophy, muscular, congenital 1 1 Johan den Dunnen
00102131 11938437-pat? PubMed: Allamand 2002 PG - - (France) - - 0 - - MDC dystrophy, muscular, congenital 1 1 Johan den Dunnen
00102132 09674786-Pat20/Pat9 PubMed: Pegoraro 1998, PubMed: Hayashi 2001 contractures elbows/wrists/hips/knees/ankles, abnormal white matter (hypoplastics pons.), no seizures M - Japan - - 0 - - MDC dystrophy, muscular, congenital; CPK: 25000; s24m 1 1 Johan den Dunnen
00102133 11938437-pat? PubMed: Allamand 2002 PG - - (France) - - 0 - - MDC dystrophy, muscular, congenital 1 1 Johan den Dunnen
00102134 11938437-pat? PubMed: Allamand 2002 PG - - (France) - - 0 - - MDC dystrophy, muscular, congenital 1 1 Johan den Dunnen
00102135 ? Subm. FMuntoni ICSM - - - - - 0 - - ? - 1 1 Johan den Dunnen
00102136 ? Subm. FMuntoni ICSM - - - - - 0 - - ? - 1 1 Johan den Dunnen
00102137 11938437-pat? PubMed: Allamand 2002 - - - (France) - - 0 - - MDC dystrophy, muscular, congenital 1 1 Johan den Dunnen
00102138 11938437-pat? PubMed: Allamand 2002 PG - - (France) - - 0 - - MDC dystrophy, muscular, congenital 1 1 Johan den Dunnen
00102139 16216942-Pat7 PubMed: Di Blasi 2005 - F - Italy - >7y 0 - - MDC no epilepsy, MRI brain classic abnormalities white matter changes; CPK: <1000 U/L; no mental retardation; walk 1 1 Johan den Dunnen
00102140 11938437-pat? PubMed: Allamand 2002 PG - - (France) - - 0 - - MDC dystrophy, muscular, congenital 1 1 Johan den Dunnen
00102141 09674786-Pat8/Pat3 PubMed: Pegoraro 1998, PubMed: Hayashi 2001 contractures, abnormal white matter, no seizures M - Japan - - 0 - - MDC dystrophy, muscular, congenital; CPK: 2360; move arms/legs-6m 1 1 Johan den Dunnen
00102142 11938437-pat? PubMed: Allamand 2002 PG - - (France) - - 0 - - MDC dystrophy, muscular, congenital 1 1 Johan den Dunnen
00102143 12552556-Pat3 PubMed: Tezak 2003 - M - United States - >25y 0 - - MDC dystrophy, muscular, congenital; waddling gait, bilateral pes cavus,; 25y-multiple contractures, tonic-clonic seizures; CPK: 739 U/L; w3y 1 1 Johan den Dunnen
00102144 ? Subm. FMuntoni ESN - - - - - 0 - - ? - 1 1 Johan den Dunnen
00102145 12552556-Pat5 PubMed: Tezak 2003 - F - United States - >6y 0 - - MDC dystrophy, muscular, congenital; 6y-waddling gait, proximal muscle weakness; 7y-complex partial seizures; CPK: 3000 U/L; w32m 1 1 Johan den Dunnen
00102146 09674786-Pat21/Pat10 PubMed: Pegoraro 1998, PubMed: Hayashi 2001 contractures elbows/hips/knees/ankles, abnormal white matter, seizures partialcomplex secondary generalized F - Japan - >9y 0 - - MDC dystrophy, muscular, congenital; CPK: 314-6192; s12m 1 1 Johan den Dunnen
00102147 09185182-PatT PubMed: Guicheney 1997 - - no Turkey - - 0 - - MDC dystrophy, muscular, congenital 1 1 Johan den Dunnen
00102148 09185182-PatI PubMed: Guicheney 1997 - - no Italy - - 0 - - MDC dystrophy, muscular, congenital 1 1 Johan den Dunnen
00102149 09185182-PatU PubMed: Guicheney 1997 - - no Uruguay - - 0 - - MDC dystrophy, muscular, congenital 1 1 Johan den Dunnen
00102150 09674786-Pat2 PubMed: Pegoraro 1998 - F - (United States) - - 0 - - MDC dystrophy, muscular, congenital; CPK: 8000; move arms/legs 1 1 Johan den Dunnen
00102151 ? Subm. FMuntoni ICSM - - - - - 0 - - ? - 1 1 Johan den Dunnen
00102152 11938437-pat? PubMed: Allamand 2002 PG - - (France) - - 0 - - MDC dystrophy, muscular, congenital 1 1 Johan den Dunnen
00102153 09674786-Pat3 PubMed: Pegoraro 1998 contractures ankles, normal white matter, no seizures; death respiratory failure F - (United States) - 6y 0 - - MDC dystrophy, muscular, congenital; CPK: 4200; move arms/legs (not vs. Gravity) 1 1 Johan den Dunnen
00102154 11369186-Pat5 PubMed: Hayashi 2001 - F - Japan - >7m 0 - - MDC dystrophy, muscular, congenital; CPK: 1200; 2y-move arms/legs vs. gGravity 2 1 Johan den Dunnen
00102155 ? Subm. FMuntoni ICSM - - - - - 0 - - ? - 1 1 Johan den Dunnen
00102156 18053718-pat PubMed: Siala 2008 2-generation family, unaffected carrier parents, 2 brothers F - Tunisia - 10y 0 - - MDC no calf hypertrophy/respiratory complications, deep tendon reflex abolished, foot exhibited equinovarus deformity, lumbar scoliosis; 4y-speaking, never walked, brain MRI increased signal periventricular white matter without structural brain involvement; 6y-respiratory complications, lumbar scoliosis pronounced; 19y-died after respiratory complications/severe amyotrophy; CPK: 1000 UI/L; mental retardation 5 4 Nacim Louhichi
00102157 17949279-Pat1/FamF2 PubMed: Louhichi 2006, PubMed: Siala 2007, PubMed: Siala 2008 2-generation family, unaffected carrier parents and brother, prenatal diagnosis unaffected carrier fetus M - Tunisia - >4y 0 - - MDC 2y-delayed motor milestones (not stand), axial/peripheral hypotonia, joint contractures, no calf hypertrophy, deep tendon reflex abolished, foot exhibited equinovarus deformity, brain MRI abnormal signal periventricular white matter; CPK: 950 UI/L; no mental retardation 2 5 Nacim Louhichi
00102158 09674786-Pat18 PubMed: Pegoraro 1998 - M - (United States) - 9y 0 - - MDC dystrophy, muscular, congenital; contractures knees, abnormal white matter, no seizures; death respiratory failure; CPK: 839; s20m 1 1 Johan den Dunnen
00102159 09674786-Pat5/Pat2 PubMed: Pegoraro 1998, PubMed: Hayashi 2001 contractures wrists/ankles, abnormal white matter, no seizures M - Japan - - 0 - - MDC dystrophy, muscular, congenital; CPK: 2000-3000; sit21m 2 1 Johan den Dunnen
00102160 16216942-Pat2 PubMed: Di Blasi 2005 - M - Norway - >1y10m 0 - - MDC no epilepsy, MRI brain classic abnormalities white matter changes; CPK: >1000 U/L; no mental retardation; sit 2 1 Johan den Dunnen
00102161 18700894-Pat5 PubMed: Oliveira 2008 - M - Portugal - >07y 0 - - MDC muscular weakness with facial/bulbar paresis and slight improvement in motor function; contractures knees; no seizures; MRI brain white matter changes, no gyral abnormalities; CPK: 1156; no mental retardation; sit 2 1 Rosário dos Santos
00102162 09674786-Pat1/Pat7 PubMed: Pegoraro 1998, PubMed: Hayashi 2001 contractures, normal white matter, open anterior opercula, seizures (generalized tonic-clonic) M - Japan - - 0 - - MDC dystrophy, muscular, congenital; CPK: 3296; move arms/legs 2 2 Johan den Dunnen
00102163 11287370-Pat1 PubMed: Di Blasi 2001 2-generation family, affected brother/sister, unaffected carrier parents and sister M - Italy - >39y 0 - - MD dystrophy, muscular; 32y-difficulty getting up from floor/climbing stairs/holding heavy weights, severe contractures neck/arm muscles preventing head rotation/bending39y-mild limb-girdle weakness; CPK: 4x 2 4 Johan den Dunnen
00102164 09185182-Fam2324 PubMed: Guicheney 1997 2-generation family, 2 affecteds (F, M), unaffected carrier father, mother, fetus - - Tunisia - - 0 - - MDC dystrophy, muscular, congenital 2 5 Johan den Dunnen
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