Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.
about
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotypeA missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosisThe seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B.Assignment of the tibial muscular dystrophy locus to chromosome 2q31.Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31Novel diagnostic features of dysferlinopathies.Dysferlinopathy course and sportive activity: clues for possible treatmentHeterogeneous characteristics of Korean patients with dysferlinopathy.Atypical Miyoshi distal myopathy: A case reportThe Réunion paradox and the digenic model.
P2860
Q24304337-B24794C4-374D-4CDD-8CC2-0F0B83B5D8D7Q24538685-65C31680-EF87-476F-99EF-814826BD0164Q24615964-B0B1DA7C-D02F-4184-B65E-608CA07EAC0DQ24678868-0543E0ED-AA89-4A73-8D82-9D33377BDCF5Q33631614-D13B1202-FE97-4994-B675-94C57C99042DQ34384680-A5B7291E-CA62-4633-A00D-C62D4D8EEF84Q34388211-94877690-8367-4EA6-BAAA-656DBE73734EQ34513720-12808464-0031-4CEF-B43B-90094397B932Q35607518-C317D60F-0D6D-4633-A8E1-9908F8145518Q35859252-1FAC9AEB-EF6C-4D51-B911-050AE69A30D8Q39018509-B1BD1871-C17E-4804-8EC7-066DB86757B8Q42589339-BE4BFFE1-1908-4C3B-BBAC-6DD41EF2A7C9
P2860
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Limb-girdle muscular dystrophy ...... egate with the same haplotype.
@ast
Limb-girdle muscular dystrophy ...... egate with the same haplotype.
@en
type
label
Limb-girdle muscular dystrophy ...... egate with the same haplotype.
@ast
Limb-girdle muscular dystrophy ...... egate with the same haplotype.
@en
prefLabel
Limb-girdle muscular dystrophy ...... egate with the same haplotype.
@ast
Limb-girdle muscular dystrophy ...... egate with the same haplotype.
@en
P2093
P2860
P1476
Limb-girdle muscular dystrophy ...... regate with the same haplotype
@en
P2093
Eggertson D
Greenberg CR
Halliday W
Wrogemann K
P2860
P304
P407
P577
1996-10-01T00:00:00Z