Phenotype #0000347886

Individual ID 00460161
Associated disease hCK
Phenotype details see paper; ..., 14m-walk; 3y-muscle cramps, fatiguability; persistently high serum creatine kinase; 11y-slowed conduction velocity; 25y-gradually weaker, particularly legs, ankle contractures, ankle contractures; 57y-muscle atrophy scapular girdle, anterior compartment arm, forearm, hand, pelvic girdle, anterior/posterior compartment legs, could abduct arms only to 45deg, sit, not stand, not walk, proximal/distal bilateral weakness all four limbs, no deep tendon reflexes; maternal uncle severe muscle weakness, 40y-lost ambulation, 65y-deceased cardio(myopathy), no PMP22 duplication
Diagnosis/Initial persistent hyperCKemia
Inheritance Unknown
Diagnosis/Definite CMT1A;BMD
Age/Examination 58y (58 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-01-18 15:58:42 +01:00 (CET)
Date last edited 2025-01-18 16:08:09 +01:00 (CET)

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