Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3). (Q47908814)

6 February 2018

title

Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3). (English)

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6 February 2018

distal muscular dystrophy

main subject

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based on heuristic

inferred from title

author

Leena Peltonen-Palotie

7

object named as

Leena Peltonen

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6 February 2018

author name string

Henna Haravuori

1

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H Annika Siitonen

2

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Ibrahim Mahjneh

3

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Peter Hackman

4

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Laura Lahti

5

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Hannu Somer

6

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Marjo Kestilä

8

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Bjarne Udd

9

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6 February 2018

publication date

1 March 2004

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6 February 2018

number of pages

5

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published in

Neuromuscular Disorders

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volume

14

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issue

3

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page(s)

183-187

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6 February 2018

The hydrophilic domain of small ankyrin-1 interacts with the two N-terminal immunoglobulin domains of titin

cites work

1 reference

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Genetic linkage of Welander distal myopathy to chromosome 2p13

30 October 2021

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Comprehensive human genetic maps: individual and sex-specific variation in recombination

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Welander distal myopathy outside the Swedish population: phenotype and genotype

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A distinct phenotype of distal myopathy in a large Finnish family.

30 October 2021

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Distal muscular dystrophy in an English family

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Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

30 October 2021

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Molecular genetics of the Finnish disease heritage.

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Obscurin is a ligand for small ankyrin 1 in skeletal muscle

30 October 2021

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Characterization of human myosin light chains 1sa and 3nm: implications for isoform evolution and function

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Avoiding recomputation in linkage analysis.

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Autosomal dominant distal myopathy not linked to the known distal myopathy loci

30 October 2021

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Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles

30 October 2021

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Autosomal dominant late adult onset distal leg myopathy

30 October 2021

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A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci

30 October 2021

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Tibial muscular dystrophy in a Belgian family

30 October 2021

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Computer-simulation methods in human linkage analysis

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Identifiers

DOI

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6 February 2018

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6 February 2018