Phenotype #0000358355

Individual ID 00473560
Associated disease MD
Phenotype details Clinical findings: Proximal muscle weakness, Prominent calves, Difficulty climbing stairs and running, Gowers sign, Tip toe walker. Direct DNA sequencing of the exons 3, 6 and 9 of LGMD-1B gene, performed in Special Medical Center in Tehran, did not show any mutations
Diagnosis/Initial muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 11y (11 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 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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