Disease #05358 (BTHLM (myopathy, Bethlem (BTHLM)))

Official abbreviation BTHLM
Name myopathy, Bethlem (BTHLM)
OMIM ID -
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 4 genes COL12A1, COL6A1, COL6A2, COL6A3
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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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
00392748 188497 - - F no Germany - - 0 - - BTHLM Global developmental delay, Delayed ability to walk, Motor delay, Delayed gross motor development COL12A1 COL12A1 1 1 Andreas Laner
00411326 FamPatVIII:1 PubMed: Bryen 2022 8-generation family, affected sister/brother, unaffected heterozygous carrier parents (fourth cousin)/relatives F yes Australia white - 0 >43y - BTHLM see paper; ..., myopathy; unremarkable pregnancy; 1d-hypotonia, soft skin, delayed motor milestones - COL6A2 1 2 Sandra Cooper
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