Phenotype #0000153637

Individual ID 00205460
Associated disease SPM
Phenotype details 7/8 wheelchair bound 35.9y (±4.0y), 1 walking with a cane 63y
Diagnosis/Initial X-linked dominant scapuloperoneal myopathy
Inheritance Familial
Diagnosis/Definite SPM
Age/Examination -
Age/Diagnosis -
Age/Onset 26y
Phenotype/Onset -
Protein WB FHL1 reduced
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 2009-09-11 20:47:21 +02:00 (CEST)
Date last edited 2012-03-04 15:57:33 +01:00 (CET)

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