Segarra-Casas Alba, Collet Roger, Gonzalez-Quereda Lidia, Vesperinas Ana, Caballero-Ávila Marta, Carbayo Alvaro, Díaz-Manera Jordi, Rodriguez María José, Gallardo Eduard, Gallano Pia, Olivé Montse
Genetics Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Genetics and Microbiology Department, Universitat Autònoma de Barcelona, Bellaterra, Spain.
Neuromuscular Diseases Unit, Neurology Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Neuromuscul Disord. 2023 Apr;33(4):319-323. doi: 10.1016/j.nmd.2023.02.006. Epub 2023 Feb 15.
Nemaline myopathy (NEM) type 10, caused by biallelic mutations in LMOD3, is a severe congenital myopathy clinically characterized by generalized hypotonia and muscle weakness, respiratory insufficiency, joint contractures, and bulbar weakness. Here, we describe a family with two adult patients presenting mild nemaline myopathy due to a novel homozygous missense variant in LMOD3. Both patients presented mild delayed motor milestones, frequent falls during infancy, prominent facial weakness and mild muscle weakness in the four limbs. Muscle biopsy showed mild myopathic changes and small nemaline bodies in a few fibers. A neuromuscular gene panel revealed a homozygous missense variant in LMOD3 that co-segregated with the disease in the family (NM_198271.4: c.1030C>T; p.Arg344Trp). The patients described here provide evidence of the phenotype-genotype correlation, suggesting that non-truncating variants in LMOD3 lead to milder phenotypes of NEM type 10.
由LMOD3双等位基因突变引起的10型杆状体肌病（NEM）是一种严重的先天性肌病，临床特征为全身肌张力减退和肌肉无力、呼吸功能不全、关节挛缩和延髓肌无力。在此，我们描述了一个家庭，有两名成年患者因LMOD3中一种新的纯合错义变异而表现为轻度杆状体肌病。两名患者均表现为运动发育轻度延迟、婴儿期频繁跌倒、明显的面部肌无力和四肢轻度肌肉无力。肌肉活检显示轻度肌病改变，少数肌纤维中有小的杆状体。神经肌肉基因检测显示LMOD3中有一个纯合错义变异，该变异与该家族中的疾病共分离（NM_198271.4：c.1030C>T；p.Arg344Trp）。这里描述的患者提供了表型-基因型相关性的证据，表明LMOD3中的非截断变异导致10型NEM的较轻表型。
