Coexistence of X-linked recessive Emery-Dreifuss muscular dystrophy with inclusion body myositis-like morphology.
We reported three cases (two familial and one sporadic) of X-linked Emery-Dreifuss muscular dystrophy (EDMD), genetically documented. Two patients demonstrated a typical inclusion body myositis (IBM)-like morphology. The third patient had only minor changes. Patients had elbow and ankle contractures, progressive wasting of humeroperoneal muscles and cardiac failure (pacemaker implantation in all). There was a mutation within the Xq28 gene and complete absence of emerin in the nuclear membrane. Mononuclear cell infiltrations, rimmed vacuoles, amyloid deposits, as well as cytoplasmic and nuclear tubulofilamentous muscle inclusions were most unusual findings. Coexistence of IBM-like morphology and X-linked recessive EDMD might indicate that pathological features of IBM are nonspecific and may be present in other neuromuscular disorders.
Fidziańska
Anna
A
Neuromuscular Unit, MRC, Polish Academy of Science, 1a Banacha Str., 02-097 Warsaw, Poland. neurmyol@cmdik.pan.pl
Rowińska-Marcińska
K
K
Hausmanowa-Petrusewicz
I
I
D000328:Adult; D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis; D005192:Family Health; D008040:Genetic Linkage; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008297:Male; D008565:Membrane Proteins / Q000378:metabolism; D008854:Microscopy, Electron / Q000379:methods; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology / Q000648:ultrastructure; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000150:complications* / Q000235:genetics / Q000473:pathology; D009154:Mutation; D018979:Myositis, Inclusion Body / Q000150:complications* / Q000235:genetics / Q000473:pathology; D009687:Nuclear Proteins; D013946:Thymopoietins / Q000378:metabolism
D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin