Global Variome shared LOVD

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Phenotype #0000239607 Individual ID 00315862 Associated disease MD Phenotype details see paper; ..., 20m-first elevated CK (HP:0003236), 2,263-6,040; proximal weakness (HP:0003701); axial weakness (HP:0003327); no muscle atrophy (-HP:0003202); no calf hypertrophy (-HP:0008981); myalgias (HP:0003326); no reduced deep tendon reflexes (-HP:0001315); no gait disturbance (-HP:0001288); no loss of ambulation (-HP:0002505); 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 14y (14 years) Age/Diagnosis - Age/Onset 00y20m 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 11:43:45 +02:00 (CEST)

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