Global Variome shared LOVD

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Phenotype #0000239613 Individual ID 00315868 Associated disease MD Phenotype details see paper; ..., 6y-first elevated CK (HP:0003236), 1,378-4,325; proximal weakness (HP:0003701); axial weakness (HP:0003327); muscle atrophy (HP:0003202), proximal; calf hypertrophy (HP:0008981); myalgias (HP:0003326); reduced deep tendon reflexes (HP:0001315); gait disturbance (HP:0001288), waddling gait; no loss of ambulation (-HP:0002505), limited, assisted ambulation; reduced respiratory function (HP:0002747), non-invasive ventilation; no cardiac abnormalities (-HP:0001627); slow, stable isease progression (HP: 0003677) Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite MYPLG Age/Examination 35y (35 years) Age/Diagnosis - Age/Onset 06y 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 11:41:20 +02:00 (CEST)

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