Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0026850 (
muscular dystrophy
)
5,870
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
FHL1, BAG3,
MATR3
and PTRF are recently identified myopathy genes associated with phenotypes that overlap
muscular dystrophy
. TCAP is a rare reported cause of
muscular dystrophy
not routinely screened in most centres. We hypothesised that these genes may account for patients with undiagnosed forms of
muscular dystrophy
in Australia. We screened a large cohort of
muscular dystrophy
patients for abnormalities in FHL1 (n=102) and TCAP (n=100) and selected patients whose clinical features overlapped the phenotypes previously described for BAG3 (n=9),
MATR3
(n=15) and PTRF (n=7). We found one FHL1 mutation (c.311G>A, p.C104Y) in a boy with rapidly progressive muscle weakness and reducing body myopathy who was initially diagnosed with
muscular dystrophy
. We identified no pathogenic mutations in BAG3,
MATR3
, PTRF or TCAP. In conclusion, we have excluded these five genes as common causes of
muscular dystrophy
in Australia. Patients with reducing body myopathy may be initially diagnosed as
muscular dystrophy
.
...
PMID:A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients. 2168 94
