Myopathy with trabecular muscle fibers.
A systematic review of muscle biopsies over a 15 year period in a large neurological hospital revealed 21 cases (7% of the total of non-inflammatory myopathies) with a distinctive pattern of myopathology and a limb-girdle clinical phenotype. The muscle pathology was dominated by a large prevalence (20-90%) of trabecular or lobulated fibers in which maldistribution of intermyofibrillar mitochondria produced a lobulated pattern of oxidative enzyme activity on transverse sections. The clinical picture was characterized by adult onset, slowly progressive muscle weakness affecting mainly proximal limb musculature, although mild distal weakness was also present in 60% of the cases. The trabecular pattern of oxidative enzyme reaction reflects maldistribution of the intermyofibrillar mitochondria; this may be caused by malfunction of a putative anchoring mechanism. While trabecular fibers can occur as a nonspecific alteration of muscle fibers in many diverse myopathies, the high prevalence of trabecular fibers as the dominant pathology in trabecular fiber myopathy makes it a distinctive (though not necessarily etiologically homogeneous) clinico-pathological entity.
Weller
B
B
Technion, Haifa, Israel.
Carpenter
S
S
Lochmüller
H
H
Karpati
G
G
D000293:Adolescent; D000328:Adult; D000368:Aged; D001706:Biopsy; D002196:Capillaries / Q000473:pathology; D002648:Child; D005260:Female; D006801:Humans; D015151:Immunoblotting; D007150:Immunohistochemistry; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D018908:Muscle Weakness / Q000473:pathology; D018482:Muscle, Skeletal / Q000098:blood supply / Q000473:pathology* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000473:pathology*; D012039:Regional Blood Flow / Q000502:physiology