Phenotype #0000163003

Individual ID 00214551
Associated disease LGMD
Phenotype details Rapid; cardiac function normal; respiratory function mild restrictive; CPK elevated (HP:0003236) 25x
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite LGMD2A
Age/Examination -
Age/Diagnosis -
Age/Onset 13y
Phenotype/Onset -
Protein WB CAPN3 94kDa partial
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 2007-12-28 12:02:23 +01:00 (CET)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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