A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies.

A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies.

Item
http://www.wikidata.org/entity/Q40940471
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.Clinical and genetic heterogeneity in myotonic dystrophies.Myotonic dystrophy type 2.Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia.Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism.Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2.Antisense oligonucleotides in neurological disorders.
P2860

A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies.

Item
http://www.wikidata.org/entity/Q40940471
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
A family with an unusual myoto ...... for future molecular studies.
@en
type
label
A family with an unusual myoto ...... for future molecular studies.
@en
prefLabel
A family with an unusual myoto ...... for future molecular studies.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
A family with an unusual myoto ...... e for future molecular studies
@en
P2093
P304
P31
P356
10.1016/0960-8966(95)00040-2
P433
P478
P50
P577
P698