Phenotype #0000123867

Individual ID 00151499
Associated disease LGMD
Phenotype details post-exercise myalgia; CPK level 1500; no intellectual disability (-HP:0001249) IQ 104; able to walk
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD2M
Age/Examination -
Age/Diagnosis -
Age/Onset 15m
Phenotype/Onset hCK
Protein IHC LAMA2, DMD, SGC normal, DAG1 absent
Owner name Rosário dos Santos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-02-23 18:21:02 +01:00 (CET)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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