Disease #00360

Official abbreviation MDC
Name dystrophy, muscular, congenital (MDC)
OMIM ID -
Inheritance -
Individuals reported having this disease 766
Phenotype entries for this disease 766
Associated with 1 gene LAMA2
Associated tissues -
Disease features -
Remarks -


Individuals

766 entries on 8 pages. Showing entries 1 - 100.
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00016342 - PubMed: von Renesse 2-generation family, 2 affecteds (sister/brother) - yes Lebanon - - 0 - - MDC see paper POMK ANKEF1, POMK, PRKDC, SLCO3A1, SNAP25-AS1 4 2 Johan den Dunnen
00025478 - - - M no China - - 0 - - MDC motor and cognitive delay at birth,His developmental milestones were characterized by gross delay. He could control his head movements when he was 8 months old, and sit unsupported at 14 months. When he was 2 years old, he could walk a few steps with help and could say “mother” and “father”. His head circumference was 46.2 cm when he was 2 years old, he had calf muscle hypertrophy and no significant joint contracture, but had mild muscle weakness, and tendon reflexes were absent. Brain MRI revealed type II agyria deformities POMT1 POMT1 2 1 Yanghaipo
00025479 - - - M no China - 00y10m 0 - - MDC He had delayed psychomotor development after birth, muscle hypotonia, and early joint contractures; serum CK was moderately elevated; brain MRI revealed brain structural malformations, cerebellar cyst, and bilateral dilatation of the lateral ventricle, and cerebellar and brainstem dysplasia . He died at the age of 10 months, POMT1 POMT1 2 1 Yanghaipo
00025480 - - - M - China - - 0 - - MDC He had hypotonia and delayed motor milestones from birth. His head circumference was 48 cm when he was 8 years old and there was muscle weakness and absence of tendon reflexes. He also had optic atrophy. His serum CK level was 2174 U/L. POMT1 POMT1 2 1 Yanghaipo
00025481 - - - M - (China) - - 0 - - MDC developmental milestones were characterized by gross delay POMT1 POMT1 2 1 Yanghaipo
00025485 - - - M no - - - 0 - - MDC developmental milestones were characterized by obvious gross delay,Physical examination determined that he had facial myopathy and poor eyesight. His head circumference at the age of 7 years was 49 cm, and he had high arched palate, bilateral knee joint contracture, muscle weakness, and absence of tendon reflexes. Brain MRI revealed bilateral dilation of the lateral and fourth ventricles, brain stem hypoplasia, and a cerebellar cyst The white matter on the left side of the brain had demyelination changes. His serum CK level was 6620 U/L. POMT1 POMT1 2 1 Yanghaipo
00036033 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036034 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036035 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036036 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036037 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036038 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036041 77186 - - M ? Libya - - 0 - - MD, MDC, myopathy, mitochondrial , Muscular Dystrophy, no further information LAMA2 LAMA2 2 1 Andreas Laner
00036042 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036043 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036044 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036045 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036046 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036049 84038 - - F ? Germany - - 0 - - MDC polyneuropathy, asymptomatic leukoencephalopathy LAMA2 LAMA2 1 1 Andreas Laner
00036050 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036051 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036052 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036053 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036054 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036055 - - - - - Germany - - 0 - - MDC - LAMA2 LAMA2 1 1 Andreas Laner
00036057 102888 - - M ? Germany - - 0 - - MDC leukodystrophy (MRT), persistent CK elevation, delayed development (motor) LAMA2 LAMA2 1 1 Andreas Laner
00054662 Pat5/PatD9 PubMed: O'Grady 2016, PubMed: Cummings 2017 2-generation family, unaffected heterozygous carrier parents M - Australia - >32y 0 - - MDC infantile hypotonia and gross motor delay, mild facial weakness, mild ptosis, contractures, scoliosis, biventricular impairment, restrictive lung disease; IHC alphaDG; histology dystrophic RYR1 RYR1 2 1 Sandra Cooper
00054663 Pat16 PubMed: O'Grady 2016 2-generation family, 1 affected, unaffected non-carrier parents M - Australia - >25y 0 - - MDC gross motor delay, progression with wheelchair dependency in teenage years, mild facial weakness; CPK elevated (863-1710); histology dystrophic LMNA LMNA 1 1 Sandra Cooper
00054664 Pat20 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - >24y 0 - - MDC gross motor delay, walked age 3y, mild facial weakness, choreoathetosis, rhabdomyolysis, moderate developmental delay; CPK elevated (943-6728); histology dystrophic GMPPB GMPPB 2 1 Sandra Cooper
00054665 - PubMed: O'Grady 2016 - F - Australia - >19y 0 - - MDC gross motor delay, walked age 6y with support, moderate cognitive delay, leukodystrophy; CPK elevated (5000-7000); IHC alphaDG; histology dystrophic LARGE LARGE 1 1 Sandra Cooper
00054666 - PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >20y 0 - - MDC gross motor delay, walked with support at 4y, ataxia, congenital cataracts, cerebellar hypoplasia and atrophy; CPK mild elevation (215-309); histology non-specific SIL1 SIL1 2 1 Sandra Cooper
00054667 - PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >18y 0 - - MDC congenital hip dislocation, gross motor delay, walked just prior to 6mo, mild facial weakness; CPK normal; IHC alphaDG; histology dystrophic RYR1 RYR1 2 1 Sandra Cooper
00054668 - PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - 2y 0 - - MDC infantile hypotonia, profound global delay, arthrogryposis, seizures; died at 2y; CPK mild elevation (323-554); histology dystrophic PIGY PIGY 1 1 Sandra Cooper
00054669 - PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >29y 0 - - MDC infantile hypotonia, gross motor delay, walked age 4y, non-ambulant from 11y, facial weakness, ophthalmoplegia, contractures, scoliosis; CPK normal; IHC alphaDG; histology non-specific RYR1 RYR1 2 1 Sandra Cooper
00054670 - PubMed: O'Grady 2016 - F - Australia - >18y 0 - - MDC progression with loss of ambulation at 10y, contractures, scoliosis, restrictive lung disease; CPK mild elevation (448); histology dystrophic LMNA LMNA 1 1 Sandra Cooper
00054671 - PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >22y 0 - - MDC progressive course with loss of ambulation from 10y, mild facial weakness, scoliosis, restrictive lung disease; CPK mild elevation (57-503); histology dystrophic SEPN1 SEPN1 1 1 Sandra Cooper
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 LAMA2 LAMA2 2 1 Sandra Cooper
00054673 - PubMed: O'Grady 2016 - M - Australia - >22y 0 - - MDC infantile hypotonia, eventration of diaphragm, gross motor delay, mild facial weakness, ptosis, ophthalmoplegia, contractures, gastrostomy fed; CPK normal; IHC alphaDG; histology dystrophic DNM2 DNM2 1 1 Sandra Cooper
00054674 - PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - >13y 0 - - MDC congenital hypotonia, gross motor delay, mild facial weakness, contractures, scoliosis; EPS consistent with myasthenic syndrome with increased jitter on SFEMG; CPK normal; IHC alphaDG; histology dystrophic GFPT1 GFPT1 2 1 Sandra Cooper
00054675 Pat66 PubMed: O'Grady 2016 - F - Australia - >12y 0 - - MDC infantile onset, gross motor delay, proximal weakness, facial weakness, ptosis, ophthalmoplegia, contractures; CPK normal; IHC alphaDG; histology non-specific DNM2 DNM2 1 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 LAMA2 LAMA2 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 LAMA2 LAMA2 2 1 Sandra Cooper
00054678 Pat91 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >44y 0 - - MDC infantile hypotonia and weakness, mild facial weakness, ptosis, contractures, dilated cardiomyopathy in 20s; CPK normal; histology dystrophic TTN TTN 2 1 Sandra Cooper
00054679 Pat92 PubMed: O'Grady 2016 - F - Australia - >21y 0 - - MDC progressive weakness with loss of ambulation age 10y, facial weakness, ptosis, contractures, tachyarrhythmia requiring pacemaker, restrictive lung disease ; CPK mild elevation (650-900); histology dystrophic LMNA LMNA 1 1 Sandra Cooper
00054680 Pat93/FamBII1 PubMed: O'Grady 2016, PubMed: Bryen 2019, Journal: Bryen 2019 2-generation family, unaffected heterozygous carrier parents M - Australia - >17y 0 - - MDC infantile hypotonia and weakness, arthrogryposis, congenital humeral and clavicle fracture, gross motor delay, walked age 6y, mild facial weakness, distal laxity, contractures, scoliosis, mild learning difficulties; CPK normal; IHC COLVI; histology dystrophic TTN TTN 5 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 LAMA2 LAMA2 2 1 Sandra Cooper
00054682 Pat96 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >11y 0 - - MDC gross motor delay, walked age 2y11m, facial weakness, distal laxity, contractures, scoliosis, rigid spine, dilated cardiomyopathy, restrictive lung disease; CPK normal; histology dystrophic TTN TTN 2 1 Sandra Cooper
00054683 Pat98 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >09y 0 - - MDC infantile hypotonia, gross motor delay, MRI - white matter abnormalities; CPK elevated); IHC alphaDG; histology dystrophic LARGE LARGE 2 1 Sandra Cooper
00054684 Pat102 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - >08y 0 - - MDC walked age 22mo, contractures, hepatosplenomegaly, moderate intellectual disability; CPK elevated (4000-9000); IHC alphaDG; histology dystrophic POMT1 POMT1 2 1 Sandra Cooper
00054685 Pat103 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >08y 0 - - MDC gross motor delay, walked age 2.5y, proximal weakness, choreiform movements, moderate intellectual disability, MRI - T2 hyperintensities; CPK elevated (600-3100); histology non-specific MICU1 MICU1 2 1 Sandra Cooper
00054686 Pat104 PubMed: O'Grady 2016 - M - Australia - >06y 0 - - MDC congenital hip dislocation, gross motor delay, unable to walk, mild facial weakness, mild scoliosis; CPK normal; histology dystrophic RYR1 RYR1 1 1 Sandra Cooper
00054687 Pat108 PubMed: O'Grady 2016 - M - Australia - >06y 0 - - MDC infantile hypotonia, gross motor delay, stood with support age 3y,macrocephaly, moderate obstructive sleep apnoea; CPK mild elevation (884-930); histology dystrophic LMNA LMNA 1 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 LAMA2 LAMA2 2 1 Sandra Cooper
00054689 Pat113 PubMed: O'Grady 2016 - M - Australia - >03y 0 - - MDC infantile hypotonia, gross motor delay, walked age 2y9mo, facial weakness, hypermobility, distal laxity, obstructive sleep apnoea; CPK normal; IHC COLVI; histology dystrophic ACTA1 ACTA1 1 1 Sandra Cooper
00054690 Pat116 PubMed: O'Grady 2016 - F - Australia - >04y 0 - - MDC infantile hypotonia, gross motor delay, walked age 4y, contractures, prominent neck flexor weakness; CPK elevated (799-2470) LMNA LMNA 1 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) LAMA2 LAMA2 1 1 Sandra Cooper
00054692 Pat119 PubMed: O'Grady 2016 - M - Australia - >03y 0 - - MDC gross motor delay, walked age 3.5y, hypermobility, distal laxity; CPK elevated (926-1310) LMNA LMNA 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 LAMA2 LAMA2 2 1 Sandra Cooper
00054694 Pat23 PubMed: O'Grady 2016 2-generation family, 1 affected, unaffected non-carrier parents M - Australia - >23y 0 - - MDC infantile hypotonia, congenital femur fracture, walked age 2 years, progression with wheelchair dependency by 12y, distal laxity, hyperkeratosis pilaris, restrictive lung disease; CPK mild elevation (282); histology dystrophic COL6A3 COL6A3 1 1 Shireen Lamandé
00054695 Pat26 PubMed: O'Grady 2016 2-generation family, 1 affected, unaffected non-carrier parents F - Australia - >21y 0 - - MDC never walked, contractures, distal laxity; CPK normal; IHC COLVI; histology non-specific COL6A2 COL6A2 1 1 Shireen Lamandé
00054696 - PubMed: O'Grady 2016 - M - Australia - >15y 0 - - MDC weakness, hypermobility and distal laxity; CPK mild elevation (265-306); histology dystrophic COL6A1 COL6A1 1 1 Sandra Cooper
00054697 Pat62 PubMed: O'Grady 2016 - F - Australia - >14y 0 - - MDC proximal weakness, distal laxity, round face, prominent heels and hyperkeratosis pilaris; CPK mild elevation (395); IHC COLVI; histology dystrophic COL6A1 COL6A1 1 1 Shireen Lamandé
00054698 Pat63 PubMed: O'Grady 2016 - M - Australia - >14y 0 - - MDC congenital hip dislocation, proximal weakness, distal laxity, contractures; CPK mild elevation (475); IHC COLVI; histology dystrophic COL6A3 COL6A3 1 1 Shireen Lamandé
00054699 Pat68 PubMed: O'Grady 2016 - F - Australia - >18y 0 - - MDC infantile hypotonia, congenital hip dislocation, gross motor delay, mild facial weakness, distal laxity, scoliosis, hyperkeratosis pilaris, long finger flexor contractures; CPK normal; IHC COLVI; histology dystrophic COL6A2 COL6A2 1 1 Shireen Lamandé
00054700 Pat69 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - >12y 0 - - MDC infantile hypotonia, arthrogryposis, congenital femur fracture and hip dislocation, gross motor delay, walked age 2 years, mild facial weakness, contractures, distal laxity, hyperkeratosis pilaris, restrictive lung disease ; CPK mild elevation (378); IHC COLVI; histology dystrophic COL6A2 COL6A2 2 1 Shireen Lamandé
00054701 Pat70 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >12y 0 - - MDC infantile onset, gross motor delay, distal laxity, contractures, hyperkeratosis pilaris, prominent heels; CPK mild elevation (245); IHC COLVI; histology dystrophic COL6A1 COL6A1 1 1 Shireen Lamandé
00054702 Pat85 PubMed: O'Grady 2016 - M - Australia - >10y 0 - - MDC infantile hypotonia, arthrogryposis, congenital hip dislocation, gross motor delay, walked with support at 3 years, mild facial weakness, ptosis, contractures, mild scoliosis; CPK normal; IHC COLVI; histology dystrophic COL6A3 COL6A3 1 1 Shireen Lamandé
00054703 Pat90 PubMed: O'Grady 2016 - M - Australia - >22y 0 - - MDC generalised weakness, mild facial weakness, hypermobility and distal laxity, contractures, hyperkeratosis pilaris; CPK mild elevation (375-603); IHC COLVI; histology dystrophic COL6A2 COL6A2 1 1 Shireen Lamandé
00054704 Pat94 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >12y 0 - - MDC gross motor delay, hypermobility, distal laxity, contractures, malar flush, restrictive lung disease; CPK mild elevation (245); IHC COLVI; histology dystrophic COL6A1 COL6A1 1 1 Shireen Lamandé
00054705 Pat100 PubMed: O'Grady 2016 - M - Australia - >9y 0 - - MDC infantile hypotonia and weakness, gross motor delay, walked age 20mo, mild facial weakness, distal laxity, contractures, hyperkeratosis pilaris, finger flexor contractures; CPK mild elevation (419); IHC COLVI; histology dystrophic COL6A1, COL6A2 COL6A1, COL6A2 2 1 Shireen Lamandé
00054706 Pat101 PubMed: O'Grady 2016 - F - Australia - >14y 0 - - MDC infantile hypotonia, congenital hip dislocation, talipes equinovarus, proximal weakness, hypermobility, distal laxity, mild scoliosis, hyperkeratosis pilaris; CPK mild elevation (343-405); IHC COLVI; histology dystrophic COL6A2 COL6A2 2 1 Shireen Lamandé
00054707 Pat105 PubMed: O'Grady 2016 - F - Australia - >11y 0 - - MDC infantile hypotonia, omphalocoele, gross motor delay, walked age 2y, mild facial weakness, distal laxity, contractures; CPK mild elevation (254); IHC COLVI; histology dystrophic COL6A1 COL6A1 1 1 Shireen Lamandé
00054708 Pat111 PubMed: O'Grady 2016 - F - Australia - >5y 0 - - MDC infantile hypotonia, arthrogryposis, congenital hip dysplasia, gross motor delay, contractures, hyperkeratosis pilaris, prominent heels, hypertrophic scarring; CPK mild elevation (338); IHC COLVI; histology dystrophic COL6A1 COL6A1 1 1 Shireen Lamandé
00054709 Pat118 PubMed: O'Grady 2016 - F - Australia - >9y 0 - - MDC infantile hypotonia, gross motor delay, non-ambulant, distal laxity, contractures, scoliosis, hyperkeratosis; CPK mild elevation (415) COL6A1 COL6A1 1 1 Shireen Lamandé
00056475 Pat3/Pat31 PubMed: Carss 2013, PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Mexico - >16y 0 - - MDC no prenatal findings; mild intellectual delay; cataracts; strabismus; ptosis; long QT syndrome; brain MRI no structural abnormality; CPK 7,323 max U/l; max motor ability w3.5y GMPPB GMPPB 1 1 Johan den Dunnen
00056476 - - 2-generation family, 1 affected, unaffected carrier mother F - Mexico - >13y 0 - - MDC decreased fetal movement; mild intellectual delay; cataracts; strabismus; intermittent nystagmus; ptosis; left ventricular dilatation; brain MRI no structural abnormality; max motor ability w3y GMPPB GMPPB 2 1 Johan den Dunnen
00056477 - - 2-generation family, 1 affected, unaffected carrier parents F - Italy - 14y 0 - - MDC dystrophy, muscular congenital (CMD), cerebellar involvement; decreased fetal movement; severe intellectual delay; drug-resistant epilepsy; motor delay; strabismus; no cardiorespiratory findings; brain MRI cerebellar hypoplasia; CPK 630 max U/l; max motor ability unable to sit GMPPB GMPPB 2 1 Johan den Dunnen
00056478 - - 2-generation family, 1 affected, unaffected carrier parents F - Italy - >10y 0 - - MDC dystrophy, muscular congenital (CMD), cerebellar involvement; decreased fetal movement; severe intellectual delay; drug-resistant epilepsy; motor delay; no ophthalmologic findings; no cardiorespiratory findings; brain MRI cerebellar hypoplasia; CPK 720 max U/l; max motor ability s2y GMPPB GMPPB 2 1 Johan den Dunnen
00056482 - - - F yes United States Hispanic - 0 - - MDC congenital cataracts, motor delays GMPPB GMPPB 2 1 Tom Winder
00056483 - - - M - United States Caucasian - 0 - - MDC cognitive impairment, seizures, weakness; CPK elevated GMPPB GMPPB 2 1 Tom Winder
00056484 - - - F - United States Caucasian - 0 - - MDC seizures, mild MR GMPPB GMPPB 2 1 Tom Winder
00056485 - - - F - United States - - 0 - - MDC - GMPPB GMPPB 2 1 Tom Winder
00056486 - - - F - United States - - 0 - - MDC dystroglycanopathy with MR and seizures; normal eyes. GMPPB GMPPB 2 1 Tom Winder
00056487 - - - F - United States - - 0 - - MDC - GMPPB GMPPB 2 1 Tom Winder
00088192 - PubMed: Harris 2017 - M no United Kingdom (Great Britain) - - 0 yes - MDC muscular dystrophy, due to partial LAMA2 deficiency LAMA2 LAMA2 2 2 Elizabeth Harris
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 LAMA2 LAMA2 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 LAMA2 LAMA2 2 1 Johan den Dunnen
00102117 11938437-pat? PubMed: Allamand 2002 - - - (France) - - 0 - - MDC dystrophy, muscular, congenital LAMA2 LAMA2 2 1 Johan den Dunnen
00102119 11938437-pat? acc. to PubMed: Allamand 2002 - - - - - - 0 - - MDC dystrophy, muscular, congenital LAMA2 LAMA2 2 1 Johan den Dunnen
00102120 11938437-pat? PubMed: Allamand 2002 PG - - (France) - - 0 - - MDC dystrophy, muscular, congenital LAMA2 LAMA2 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 LAMA2 LAMA2 2 1 Johan den Dunnen
00102122 11938437-pat? PubMed: Allamand 2002 PG - - (France) - - 0 - - MDC dystrophy, muscular, congenital LAMA2 LAMA2 2 1 Johan den Dunnen
00102123 11938437-PG PubMed: Allamand 2002 - - - (France) - - 0 - - MDC dystrophy, muscular, congenital LAMA2 LAMA2 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 LAMA2 LAMA2 2 1 Johan den Dunnen
00102125 09541105-Fam490 - 2-generation family, affected son, unaffected carrier father M no - - - 0 - - MDC dystrophy, muscular, congenital LAMA2 LAMA2 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 LAMA2 LAMA2 2 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) LAMA2 LAMA2 2 1 Rosário dos Santos
00102130 11938437-pat? PubMed: Allamand 2002 - - - (France) - - 0 - - MDC dystrophy, muscular, congenital LAMA2 LAMA2 1 1 Johan den Dunnen
00102131 11938437-pat? PubMed: Allamand 2002 PG - - (France) - - 0 - - MDC dystrophy, muscular, congenital LAMA2 LAMA2 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 LAMA2 LAMA2 1 1 Johan den Dunnen
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