Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis.

Italo MaragoMark RobertsFederico RoncaroliDaniel DuPlessisCaroline SewrySanthosh NagarajuFaheema LimbadaChiara Marini-BettoloJudith HudsonSiwalik BanerjeeLaura NewtonMarwan BukhariHector ChinoyJames B Lilleker

Published in: Rheumatology (Oxford, England) (2021)

Adult-onset genetic myopathies, particularly LGMD R12, can mimic IIM. Accurate diagnosis is crucial to avoid use of potentially harmful immunosuppressive therapies, allow appropriate genetic counselling, and facilitate involvement in research studies.

Keyphrases

muscular dystrophy
duchenne muscular dystrophy
genome wide
copy number
oxidative stress
high resolution
smoking cessation
gene expression
human immunodeficiency virus
late onset
hepatitis c virus
hiv infected
early onset