Hereditary rimmed vacuole myopathy showing interstitial amyloid deposition in muscle tissue.

Abstract:

:We describe a consanguineous family that had progressive myopathy with rimmed vacuole (RV) formation and amyloid deposition. Patient 1 is a 71-year-old woman with muscle atrophy in the lumbar girdle and lower extremities. Patient 2 is a 40-year-old man (the son of Patient 1) with fatty changes in the biceps femoris muscles. Muscle biopsies revealed myopathic and neurogenic degeneration with RV, necrotic fibers, and interstitial amyloid deposition. Amyloid deposition was detected only in the muscle tissue.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Kojima Y,Sakai K,Ishida C,Asaka T,Hamaguchi T,Nozaki I,Fukushima K,Tsuchiya A,Kametani F,Yazaki M,Okino S,Yamada M

doi

10.1002/mus.21373

subject

Has Abstract

pub_date

2009-09-01 00:00:00

pages

472-5

issue

3

eissn

0148-639X

issn

1097-4598

journal_volume

40

pub_type

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