行政院國家科學委員會專題研究計畫成果報告:肢帶型肌肉失養症DYSTROPHIN相關醣蛋白的免疫組織學研究

To differentiate autosomal recessive
limb-girdle muscular dystrophies (LGMD)
and congenital muscular dystrophies
(CMD) we applied schematic
immunostaining on muscle biopsies of 24
LGMD patients and 4 CMD patients with
antibodies against α -, β - γ and δ -
sarcoglycan. Immunostaining with merosin
was also applied to patients with CMD.
There was no reduced immunoreactivity in
all the patients. Dysferlin immunostaining
showed markedly reduced staining in 5
patients, thus leading to the diagnosis of
LGMD2B. All these 5 patients had very high
CK level (>4000U/L) and various degree of
distal weakness (besides proximal weakness).
One patient’s older sister had the clinical
presentation of Miyoshi myopathy. In
conclusion, LGMD due to sarcoglycan
deficiency was not detected in our cases but 5
patients with LGMD2B were identified.