Global Variome shared LOVD

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Phenotype #0000058654 Individual ID 00078898 Associated disease MYOP Phenotype details myopathy, congenital; increasing falls and decreasing exercise tolerance (wheelchair for long distances); weakness distal>proximal, hand intrinsics most involved; no eye muscle involvement, no respiratory involvement, no cardiac involvement; normal school performance; prominent myalgias; normal EMG; biopsy type I fiber predominance, core-like areas, central nuclei >25% fibers; normal; normal CPK (-HP:0003236); areas DES/actin immunopositivity Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset neonatal hypotonia, delayed motor development Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-09-07 15:20:17 +02:00 (CEST) Date last edited 2012-09-07 15:28:49 +02:00 (CEST)

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