A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene

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• 作者：Keiichiro Tsunoda^a ; Toru Yamashita^a ; Emi Motokura^a ; Yoshiaki Takahashi^a ; Kota Sato^a ; Mami Takemoto^a ; Nozomi Hishikawa^a ; Yasuyuki Ohta^a ; Atsuko Nishikawa^b ; Ichizo Nishino^b ; Koji Abe^a ; ^{me18046@s.okayama-u.ac.jp}
• 关键词：ACTA1 ; alfa-actin ; ALT ; alanine aminotransferase ; AS-PCR ; allele specific-polymerase chain reaction ; AST ; aspartate aminotransferase ; CFL2 ; cofilin2 ; CO2 ; carbon dioxide ; CT ; computed tomography ; DNA ; deoxyribonucleic acid ; ESP6500 ; Exome Sequencing Project 6500 ; H&E ; hematoxylin and eosin ; HCO3&minus ;   ; bicarbonate ion ; HGVD ; Human Genetic Variation Database ; MGUS ; monoclonal gammopathy of undetermined significance ; NADH-TR ; nicotinamide adenine dinucleotide tetrazolium reductase ; NEB ; neb
• 刊名：Journal of the Neurological Sciences
• 出版年：2017
• 出版时间：15 February 2017
• 年：2017
• 卷：373
• 期：Complete
• 页码：254-257
• 全文大小：528 K
• 卷排序：373

文摘

This case of adult-onset nemaline myopathy showed hypercapnic respiratory failure. Muscle weakness progressed very slowly in our patient. Novel compound heterozygous mutations identified in the NEB gene.