Congenital tremor and myopathy secondary to novel MYBPC1 variant

被引：6

作者：

Leduc-Pessah, Heather ^{[1
,7
]}

Smith, Ian C. ^{[2
]}

Kernohan, Kristin D. ^{[3
,4
]}

Sampaio, Marcos ^{[5
]}

Melkus, Gerd ^{[5
]}

Strasser, Lauren ^{[1
]}

Chisholm, Caitlin ^{[3
]}

Huang, Lijia ^{[3
]}

Hanes, Ilana ^{[1
]}

Tran, My-An ^{[1
]}

Venkateswaran, Sunita ^{[1
]}

Muir, Katherine ^{[1
]}

Charlesworth, Laurel ^{[6
]}

Warman-Chardon, Jodi ^{[2
,3
,6
]}

机构：

[1] Childrens Hosp Eastern Ontario, Dept Pediat, Neurol, Ottawa, ON, Canada

[2] Ottawa Hosp Res Inst, Ottawa, ON, Canada

[3] Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada

[4] Childrens Hosp Eastern Ontario, Newborn Screening, Ottawa, ON, Canada

[5] Ottawa Hosp, Dept Radiol, Ottawa, ON, Canada

[6] Ottawa Hosp, Dept Med, Neurol, Ottawa, ON, Canada

[7] Childrens Hosp Eastern Ontario, 401 Smyth Rd, Ottawa, ON K1H 8L1, Canada

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2024年 / 457卷

基金：

加拿大健康研究院;

关键词：

Tremor; Myogenic tremor; Congenital myopathy; MYOTREM; MYBPC1; Myosin binding protein-C; BINDING-PROTEIN-C; MYOSIN; SEQUENCE; DOMAIN; SLOW; GENE;

D O I：

10.1016/j.jns.2023.122864

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Congenital myopathy with tremor (MYOTREM) is a recently described disorder characterized by mild myopathy and a postural and intention tremor present since early infancy. MYOTREM is associated with pathogenic variants in MYBPC1 which encodes slow myosin-binding protein C, a sarcomere protein with regulatory and structural roles. Here, we describe a family with three generations of variably affected members exhibiting a novel variant in MYBPC1 (c.656 T > C, p.Leu219Pro). Among the unique features of affected family members is the persistence of tremor in sleep. We also present the first muscle magnetic resonance images for this disorder, and report muscle atrophy and fatty infiltration.

引用

页数：7

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