Table 3 Myopathological findings
From: Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D
Muscle | Neurogenic fiber type grouping | Fiber type predominance | Fiber size variation | Fibrosis and fatty degeneration | Increase of internal nuclei | Fiber splitting | Necrosis | Lymphocyte infiltrates | Fiber regeneration | Rimmed vacuoles | Cytoplasmic myofibrillar inclusions | Core-like lesions | Rubbed-out fibers | Moth-eaten | Lobulated fibers | Ragged red fibers | COX– fibers | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FF1 | |||||||||||||||||||
III-6 | VL | – | + | ++ | + | + | – | – | – | + | + | + | – | ++ | + | – | – | ||
III-8 | S | (+) | – | ++ | ++ | ++ | ++ | – | – | + | ++ | ++ | – | – | – | – | – | ||
III-12 | VL | – | + | (+) | + | – | – | – | – | + | (+) | + | – | – | – | – | – | ||
GLU | – | + | (+) | + | – | + | – | + | + | + | ++ | + | – | – | – | – | |||
VL | – | (+) | + | + | – | + | + | + | + | ++ | – | – | + | – | – | – | |||
IV-7 | GM | – | – | + | + | + | + | + | + | – | + | + | +++ | – | – | – | – | – | |
GM | – | – | ++ | ++ | ++ | ++ | – | + | + | ++ | ++ | + | – | + | – | – | – | ||
IV-8 | GM | – | – | + | – | + | + | + | + | + | + | + | + | – | + | + | – | – | |
IV-9 | VL | – | + | + | – | + | + | + | + | + | + | + | – | – | + | – | – | – | |
VL | + | – | ++ | + | + | – | – | – | – | + | + | – | – | – | (+) | – | (+) | ||
IV-10 | VL | – | – | – | – | – | – | – | – | – | + | (+) | + | – | – | – | – | – | |
VL | – | + | + | – | + | – | – | – | – | + | + | + | – | – | – | – | – | ||
FF2 | |||||||||||||||||||
III-4 | VL | – | + | – | + | – | – | – | – | + | + | – | – | – | – | – | (+) | ||
III-5 | VL | – | + | – | + | – | – | – | – | + | ++ | – | – | – | – | – | (+) | ||
III-7 | VL | – | ++ | ++ | +++ | + | + | + | + | + | + | + | – | + | – | – | – | ||
FF3 | |||||||||||||||||||
IV-1 | VL | + | – | ++ | + | +++ | + | + | + | – | + | ++ | + | – | + | – | – | – | |
GL | – | – | ++ | + | ++ | + | ++ | + | – | + | ++ | ++ | – | + | + | – | (+) | ||
FF4 | |||||||||||||||||||
III-2 | VL | – | + | ++ | ++ | ++ | + | + | – | – | + | + | + | – | + | – | – | – | |
IV-1 | VL | – | – | (+) | – | + | – | + | – | + | + | + | ++ | – | + | – | – | – | |
FF5 | |||||||||||||||||||
IV-1 | VL | – | + | ++ | ++ | ++ | + | + | + | – | ++ | + | + | – | – | +++ | – | – | |
FF6 | |||||||||||||||||||
IV-1 | VL | + | – | ++ | ++ | + | – | – | – | – | + | + | – | – | + | + | – | (+) | |