Global Variome shared LOVD

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Phenotype #0000239611 Individual ID 00315866 Associated disease MD Phenotype details see paper; ..., 8y-deceased, 1y-first elevated CK (HP:0003236), 4,203; proximal weakness (HP:0003701); axial weakness (HP:0003327); calf hypertrophy (HP:0008981); no myalgias (-HP:0003326); reduced deep tendon reflexes (HP:0001315); gait disturbance (HP:0001288), poor heel strike; loss of ambulation (HP:0002505); reduced respiratory function (HP:0002747); no cardiac abnormalities (-HP:0001627); rapid disease progression (HP:0003678) Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite MYPLG Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset 01y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-10-29 16:12:56 +01:00 (CET) Date last edited 2023-06-02 11:46:09 +02:00 (CEST)

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