伴有骨骼不对称和半膈肌抬高的肌病是由肌管素突变引起的。
Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations.
作者信息
Grogan P M, Tanner S M, Ørstavik K H, Knudsen G P S, Saperstein D S, Vogel H, Barohn R J, Herbelin L L, McVey A L, Katz J S
机构信息
Department of Neurology, Stanford University Medical Center, Palo Alto, CA, USA.
出版信息
Neurology. 2005 May 10;64(9):1638-40. doi: 10.1212/01.WNL.0000160393.99621.D0.
The authors report two families with a myopathy phenotype affecting only women, marked by asymmetric weakness, skeletal asymmetry, and an elevated hemidiaphragm. One family had a mutation in a stop codon in exon 9 of the myotubularin gene, and the other had a splice site mutation in exon 13. Both families had manifesting and nonmanifesting carriers. Skewed X-inactivation appeared to explain the clinical manifestations in only one of the two families.
作者报告了两个仅影响女性的肌病表型家族，其特征为不对称肌无力、骨骼不对称以及半侧膈肌抬高。一个家族在肌管素基因第9外显子的终止密码子处存在突变，另一个家族在第13外显子处存在剪接位点突变。两个家族均有症状表现型和无症状表现型携带者。X染色体失活偏倚似乎仅能解释两个家族中一个家族的临床表现。
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