Higuchi I, Iwaki H, Kawai H, Endo T, Kunishige M, Fukunaga H, Nakagawa M, Arimura K, Osame M
Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan.
J Neurol Sci. 1997 Dec 9;153(1):100-5. doi: 10.1016/s0022-510x(97)00182-2.
A new homozygous alpha-sarcoglycan (adhalin) gene mutation was found in a Japanese patient with severe childhood autosomal recessive muscular dystrophy (SCARMD). Muscle biopsy specimens from the patient showed marked reduction but not complete deficiency of alpha-sarcoglycan. The sequence of part of exon 3 of the alpha-sarcoglycan gene exhibited a cytosine to thymidine substitution at nucleotide position 220. Since the same mutation was not found in 100 normal control samples, this new alpha-sarcoglycan gene mutation is not a polymorphism but is presumed to be responsible for the marked reduction of alpha-sarcoglycan in skeletal muscle. Most patients with homozygous alpha-sarcoglycan gene mutation were reported to show complete alpha-sarcoglycan deficiency. Present case showed the homozygous missense mutation of alpha-sarcoglycan and associated with incomplete alpha-sarcoglycan deficiency and severe clinical phenotype.
在一名患有严重儿童常染色体隐性遗传性肌营养不良症（SCARMD）的日本患者中发现了一种新的纯合α-肌聚糖（桥粒蛋白）基因突变。该患者的肌肉活检标本显示α-肌聚糖明显减少，但并非完全缺失。α-肌聚糖基因第3外显子部分序列在核苷酸位置220处出现胞嘧啶到胸腺嘧啶的替换。由于在100份正常对照样本中未发现相同突变，因此这种新的α-肌聚糖基因突变并非多态性，而是被推测与骨骼肌中α-肌聚糖的明显减少有关。据报道，大多数纯合α-肌聚糖基因突变患者表现为α-肌聚糖完全缺失。本病例显示了α-肌聚糖的纯合错义突变，并伴有不完全α-肌聚糖缺乏和严重的临床表型。
