Phenotype #0000267859

Individual ID 00372545
Associated disease MD
Phenotype details proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, no distal lower limb weakness, slow progression; still ambulant; no contractures; hypertrophy calf; no facial weakness; no ptosis; no neck weakness; no scoliosis; no rigid spine; FVC normal; no intellectual disability; raised CK 3.4x; EMG myopathic; muscle biopsy increased fiber size variability; no cardiac disease
Diagnosis/Initial muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 26y (26 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-05-09 13:06:47 +02:00 (CEST)
Date last edited N/A

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