Premium
Dominantly inherited tubular aggregate myopathy
Author(s) -
Cameron C. H. Stuart,
Allen Ingrid V.,
Patterson Victor,
Avaria Maria A.
Publication year - 1992
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.1711680410
Subject(s) - basophilic , myopathy , pathology , endoplasmic reticulum , electron microscope , ultrastructure , anatomy , golgi apparatus , chemistry , biology , medicine , biochemistry , physics , optics
We report an unusual familial myopathy characterized morphologically by the presence of large tubular aggregates in all fibre types. Two patients, a father and daughter, presented with slowly progressive proximal weakness, limitation of eye movement, and Achilles tendon contractures. Serum creatine kinase was 5–10 times normal. Light microscopy revealed type I fibre predominance. Basophilic accumulations, which stained intensely with the NADH‐TR reaction, were present in both fibre types. Electron microscopy revealed that these consisted of tightly packed parallel tubular arrays. These varied somewhat in their ultrastructural appearance and were classified accordingly as type I, II, and III tubular structures. The tubular aggregates appear to be derived from the sarcoplasmic reticulum. This report further supports the evidence of a distinct clinico‐pathological entity of genetic origin.