Disease #05358

Official abbreviation BTHLM
Name myopathy, Bethlem (BTHLM)
OMIM ID -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 4 genes COL12A1, COL6A1, COL6A2, COL6A3
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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00146420 - - - M no United States Italian;American-Indian 46y 0 - - BTHLM childhood onset slowly progressive limb-girdle myopathy with joint contractures in fingers ("prayer sign") COL6A1 COL6A1 1 1 Payam Soltanzadeh
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