Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene.
about
Strong association of de novo copy number mutations with autismThe importance of genetic diagnosis for Duchenne muscular dystrophyClinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD geneAntisense oligonucleotide induced exon skipping and the dystrophin gene transcript: cocktails and chemistriesClinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseasesMolecular biology of neurological diseases.The DNA laboratory and neurological practice.Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis.Reproductive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimatesSporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion.Investigation of muscle disease.The childhood muscular dystrophies: diseases sharing a common pathogenesis of membrane instability.Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations.Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.Recent advances in understanding muscular dystrophyThe first decade of molecular genetics in neurology: changing clinical thought and practice.Genetic and clinical correlations of Xp21 muscular dystrophy.Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individualsNovel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agentsElectrically induced muscle cramps induce hypertrophy of calf muscles in healthy adults.Pseudometabolic presentation of dystrophinopathy due to a missense mutation.Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophinAn intact cysteine-rich domain is required for dystrophin function.Dystrophinopathies: clarification and complication.Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy.Dystrophin-associated proteins and the muscular dystrophies: a glossary.[Dystrophin in the differentiation between Duchenne and Becker muscular dystrophies: an immunohistochemical study compared with clinical stage, serum enzymes and muscle biopsy]An inherited dystrophin deletion without muscle weakness.Phenotypic heterogeneity and the single gene.Normal dystrophin in McLeod myopathy.Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?Reverse fiber type disproportion: A distinct metabolic myopathy.Acquired multifocal myofibrillar disruption selective of type II fibres.
P2860
Q24633543-B107DE5E-3BF8-4897-8896-8DAFEA530C1EQ26769701-3C60BAA0-7C05-4EB4-8C30-162B3841BD09Q27011968-42EAEB6A-F8E6-4B9A-9A62-059B07EF00A3Q27480935-2461D85E-94B3-4C0C-91FE-CD8B5A500235Q28273990-08195C92-C458-49DE-8AD7-B542FBF84D7FQ30493405-21796B1B-39BA-4AE6-8014-B3579B113A9BQ30495790-871FE5AD-F78F-43C1-8B4E-9DED39277503Q33595768-E1BA8AF4-2D93-4EE8-8D8D-4A008CC3B29BQ33596781-6504A472-EFC3-4DB9-9B75-20231509F45FQ33734762-0445D842-B9C9-4395-B0ED-901F86442176Q33735060-4A266695-949A-4173-93C8-581C59FF4EE3Q34722545-08063FDB-54E5-4E6F-8A7D-C00CF49EB9A0Q34926082-D7900BA2-0C82-4D27-A01C-D5C14AC788B0Q35196969-EFE900A4-B4A1-4DCD-9367-0D15416C78B2Q35534859-6EDFF07D-BA7D-478A-97D3-E8141B1FF47BQ35753836-ED827079-D54A-44A0-BA10-02FC8BF6A716Q35848767-29ED4524-2A68-4BF6-BD3E-ADB8F55F31EEQ36420910-C659F0D9-9922-4D73-93D4-19B86314EEE4Q36925191-1EF8F0CB-1922-4BF9-9540-65F1562138BEQ37465187-935CEF3F-3741-4C4C-8696-EFE40A79D452Q37812049-BE007DD2-1720-432E-AF11-18ED53FFC59EQ40539157-66B24887-ADA6-49F5-9000-BFECC98935D0Q41020596-100F0F55-B0EF-42BE-A1D7-085F1BC33258Q41068606-70D51DFC-2FB5-4F41-B2A3-0C7731FDA8EEQ41148786-5A9EB60A-C8F3-498F-A935-1212AB02016EQ41160185-212DDCA9-2765-4A36-A1C7-DCF24E7C5D7DQ41874136-17116F1D-21CA-48CD-AF88-15624A48EA30Q42659012-61E6732F-A776-4A54-BE5F-F9253CCC8AAEQ43146677-3439D8D6-EE68-452B-8825-9A356B3D5EA1Q44415679-380D3AC9-7926-41CF-BE91-A2192990257FQ47326155-A979B68E-0277-4665-915E-5930B6ACE149Q51571389-DD2C278C-AC1E-44D2-85E9-F87BA222BC18Q52521767-32DE1271-C4E9-4D56-91EB-F0F6C1855FB3
P2860
Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年学术文章
@wuu
1989年学术文章
@zh
1989年学术文章
@zh-cn
1989年学术文章
@zh-hans
1989年学术文章
@zh-my
1989年学术文章
@zh-sg
1989年學術文章
@yue
1989年學術文章
@zh-hant
name
Familial X-linked myalgia and ...... letion in the dystrophin gene.
@en
Familial X-linked myalgia and ...... letion in the dystrophin gene.
@nl
type
label
Familial X-linked myalgia and ...... letion in the dystrophin gene.
@en
Familial X-linked myalgia and ...... letion in the dystrophin gene.
@nl
prefLabel
Familial X-linked myalgia and ...... letion in the dystrophin gene.
@en
Familial X-linked myalgia and ...... letion in the dystrophin gene.
@nl
P2093
P356
P1433
P1476
Familial X-linked myalgia and ...... letion in the dystrophin gene.
@en
P2093
Fischbeck KH
Gospe SM Jr
Grootscholten PM
P304
P356
10.1212/WNL.39.10.1277
P407
P577
1989-10-01T00:00:00Z