関: merosin-deficient congenital muscular dystrophy

WordNet

inadequate in amount or degree; "a deficient education"; "deficient in common sense"; "lacking in stamina"; "tested and found wanting" (同)lacking, wanting
falling short of some prescribed norm; "substandard housing" (同)inferior, substandard
any degenerative disorder resulting from inadequate or faulty nutrition
of or relating to or consisting of muscle; "muscular contraction"
having or suggesting great physical power or force; "the muscular and passionate Fifth Symphony"

PrepTutorEJDIC

欠陥のある,欠けた,不足した
栄養障害 / 筋萎縮症,筋ジストロフィー(筋肉の退化・萎縮・運動障害などが起こる病気)
『助肉の』,筋肉でできた / 筋肉による / 筋肉の発達した

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1. 眼咽頭型、遠位型，および先天性筋ジストロフィー oculopharyngeal distal and congenital muscular dystrophies
2. 肢帯型筋ジストロフィー limb girdle muscular dystrophy
3. アレキサンダー病 alexander disease
4. ペリツェウス・メルツバッハー病 pelizaeus merzbacher disease
5. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn

English Journal

Triggering regeneration and tackling apoptosis: a combinatorial approach to treating congenital muscular dystrophy type 1 A.

Yamauchi J, Kumar A, Duarte L, Mehuron T, Girgenrath M.SourceDepartment of Health Sciences, Boston University, 635 Commonwealth Avenue, Boston, MA 02215, USA.
Human molecular genetics.Hum Mol Genet.2013 Jun 26. [Epub ahead of print]
Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder caused by mutations in the laminin-α2 gene (OMIM: 607855). Currently, no treatment other than palliative care exists for this disease. In our previous work, genetic interventions in the Lama2Dy-w mous
PMID 23773998

Clinical and skeletal muscle biopsy characteristics of 25 patients with floppy infant syndrome.

Bing Q, Hu J, Li N, Shen HR, Zhao Z.AbstractAims: Floppy infant syndrome (FIS) comprises of a group of disorders with a common symptom of generalized hypotonia at birth or in early life, which causes diagnostic challenge. In the current work, we aimed to describe the clinical and histopathological characteristics of FIS to help improve the diagnosis of this condition. Methods: We collected information on the clinical characteristics, laboratory data, electrophysiological test results and detailed skeletal muscle biopsy histopathological features of 25 infants with FIS. We then discussed the final diagnoses and analyzed the neuromuscular features. Results: Among the 25 infants with FIS, there were 7 cases of spinal muscular atrophy (SMA), 4 cases of congenital muscular dystrophy (CMD) (3 cases of merosin-deficient CMD and 1 case of Ullrich CMD), 8 cases of congenital myopathy (2 cases of central core disease, 1 case each of nemaline myopathy and centronuclear myopathy, and 4 cases of congenital fiber-type disproportion), and 6 cases of metabolic myopathy (3 cases of lipid storage myopathy, 2 cases of Pompe's disease, and 1 case of Leigh's syndrome). The histopathological characteristics of muscle biopsy were found to be distinct for these subgroups. Conclusions: FIS is caused by a variety of neuromuscular disorders that have common clinical manifestations, including SMA, CMD, congenital myopathies and metabolic myopathies. Skeletal muscle biopsy is an essential tool for the definite and differential diagnoses of FIS, especially of neuromuscular origin.
Clinical neuropathology.Clin Neuropathol.2013 Jun 7. [Epub ahead of print]
Aims: Floppy infant syndrome (FIS) comprises of a group of disorders with a common symptom of generalized hypotonia at birth or in early life, which causes diagnostic challenge. In the current work, we aimed to describe the clinical and histopathological characteristics of FIS to help improve the di
PMID 23743156

Japanese Journal

Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy

FUJII Yuji,SUGIURA Chitose,FUKUDA Chisako,MAEGAKI Yoshihiro,OHNO Kousaku
Brain & development 33(2), 140-144, 2011-02-01
NAID 10029560577

Merosin-deficient congenital muscular dystrophy in Korea

CHAE Jong-Hee,LEE Jin Sook,HWANG Hee,KIM Ki Joong,HWANG Yong Seung,PARK June Dong,CHEON Jung-Eun,KIM In-One,CHOE Ghee Young,PARK Sung Hye
Brain & development 31(5), 341-346, 2009-05-01
NAID 10025579706

MR spectroscopy and diffusion tensor imaging of the brain in congenital muscular dystrophy with merosin deficiency : Metabolite level decreases, fractional anisotropy decreases, and apparent diffusion coefficient increases in the white matter

SIJENS P. E.,FOCK J. M.,MEINERS L. C.,POTZE J. H.,IRWAN R.,OUDKERK M.
Brain & development 29(5), 317-321, 2007-06-01
NAID 10024135972

★リンクテーブル★

リンク元	「メロシン欠損型筋ジストロフィー」
関連記事	「deficient」「dystrophy」「muscular」「muscular dystrophy」「merosin」