Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000125122 Individual ID 00102156 Associated disease MDC Phenotype details 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 Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset st36m Protein IHC no LAMA2 Owner name Nacim Louhichi Database submission license No license selected Created by Nacim Louhichi Date created 2007-10-08 08:33:43 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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