Phenotype #0000095843

Individual ID 00123609
Associated disease BMD
Phenotype details atypical, exercise-induced (basketball/soccer) muscle pain/stiffness (calves/proximal upper extremities) lasting 1ñ2h relieved by warm bath/rest; exertion-induced episodes myoglobinurianormal developmental milestones; EMG non-inflammatory myopathy;; normal muscle tone, mass, strength; elevated serum CPK (HP:0003236) 939-16500; no intellectual disability (-HP:0001249); no motor delay (-HP:0001270)
Diagnosis/Initial myalgia
Inheritance Familial, X-linked
Diagnosis/Definite BMD
Age/Examination 17y (17 years)
Age/Onset 5y
Phenotype/Onset muscle pain
Age/Diagnosis -
Protein IHC DMD/SGCA/DYSF/LAMA2 normal; WB DMD normal
Owner name Kelly Schoch
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-05-05 20:41:39 +02:00 (CEST)
Date last edited 2012-03-04 15:56:34 +01:00 (CET)

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