Phenotype #0000123847

Individual ID 00151477
Associated disease LGMD
Phenotype details hypotonia, febrile illness (skin vesicles), no contractures, hypertrophy, spine unaffected, weakness lower limbs > upper limbs, flexors stronger than extensors, eyes unaffected, no microcepahly, MRI brain normal; prednisolone treatment positive; no microcephaly, no eye involvement; CPK level 60000; no intellectual disability (-HP:0001249); able to walk
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD2M
Age/Examination -
Age/Diagnosis -
Age/Onset 10m
Phenotype/Onset -
Protein IHC DAG1 severely 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 2008-01-27 16:39:30 +01:00 (CET)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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