Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy
نویسندگان
چکیده
Min-Wook Kim, M.D., Dae-Hyun Jang, M.D., Jun Kang, M.D., Seungok Lee, M.D., Sun Young Joo, M.D., Ja-Hyun Jang, M.D., Eun-Hae Cho, M.D., Young-Chul Choi, M.D., and Jung Hwan Lee, M.D. Departments of Rehabilitation, Hospital Pathology, Laboratory Medicine, and Orthopaedic Surgery, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul; Green Cross Genome, Yongin; Green Cross Laboratories, Yongin; Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
منابع مشابه
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the LAMA2 gene encoding laminin-alpha2. We describe the molecular study of 26 patients with clinical presentation, magnetic resonance imaging and/or laminin-alpha2 expression in muscle, compatible with MDC1A. The combination of full genomic sequencing and complementary DNA analysis led to the particularly high mutation dete...
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We report the first known ethnic Malay patient with laminin alpha-2 (merosin) deficiency (MDC1A), a subtype of congenital muscular dystrophy (CMD)as a result of novel LAMA2 gene mutations. The 21-month-old female presented with hypotonia at birth and gross motor delay of her distal lower limbs. Physical examination showed generalised hypotonia, hyporeflexia and myopathic facies but good cogniti...
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Merosin deficient congenital muscular dystrophy (MDC1A) is a severe neuromuscular disorder with onset in infancy that is associated with severe morbidities (particularly wheelchair dependence) and early mortality. It is caused by recessive mutations in the LAMA2 gene that encodes a subunit of the extracellular matrix protein laminin 211. At present, there are no treatments for this disabling di...
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Merosin-deficient CMD type 1A (MDC1A), caused by mutations of laminin subunit alpha 2 (LAMA2), is a predominant subtype of congenital muscular dystrophy (CMD). Herein, we described a Chinese patient with MDC1A who was admitted to hospital 17 days after birth because of marasmus and feeding difficulties. Mutations were identified by targeted capture and next generation sequencing (NGS) and furth...
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Congenital muscular dystrophies are a group of heterogeneous inherited autosomal recessive disorders. The so-called 'pure' or 'occidental' form is further divided into merosin-positive and merosin-negative subgroups. Merosin is also expressed in the nervous system and its deficiency could affect development of the nervous system. The authors report two siblings with merosin-negative congenital ...
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