Global Variome shared LOVD

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Phenotype #0000130173 Individual ID 00165294 Associated disease NEM Phenotype details typical NEM, but distribution weakness distinct (no significant facial weakness/foot drop); hypotonia at birth, delayed early motor milestones, frequent falls, inability to run; 4y-diagnosis nonspecfic; congenital myopathy, muscle biopsy marked fiber-size variability, type I predominance; 16y-walk short distances; 16y-loss ambulation Diagnosis/Initial nemaline myopathy Inheritance Isolated (sporadic) Diagnosis/Definite NEM-7 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Alan Beggs Database submission license No license selected Created by Alan Beggs Date created 2009-10-17 20:05:27 +02:00 (CEST) Date last edited 2012-03-09 19:02:28 +01:00 (CET)

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