(Q37385129)

20 August 2017

Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? (English)

1 reference

20 August 2017

1 reference

1

1 reference

20 August 2017

Albert Selva-O'Callaghan

4

object named as

Albert Selva-O'Callaghan

0 references

Isidro Ferrer

8

object named as

Isidre Ferrer

1 reference

20 August 2017

Judith Armstrong

2

1 reference

20 August 2017

Alexey Shatunov

3

1 reference

20 August 2017

Albert Selva-O'Callaghan

4

1 reference

20 August 2017

Rosa Dominguez-Oronoz

5

1 reference

20 August 2017

Arantxa Ortega

6

1 reference

20 August 2017

Lev Goldfarb

7

1 reference

20 August 2017

Montse Olivé

9

1 reference

20 August 2017

22 November 2008

1 reference

Journal of the Neurological Sciences

20 August 2017

1 reference

20 August 2017

277

1 reference

20 August 2017

1-2

1 reference

20 August 2017

167-171

1 reference

Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

Myotilinopathy in a family with late onset myopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

A mutation in myotilin causes spheroid body myopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

Actin-organising properties of the muscular dystrophy protein myotilin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

Mutations in myotilin cause myofibrillar myopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

myotilin Mutation found in second pedigree with LGMD1A

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

Myotilin is mutated in limb girdle muscular dystrophy 1A

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

Different early pathogenesis in myotilinopathy compared to primary desminopathy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

Hypothyroidism presenting as muscle stiffness and pseudohypertrophy: Hoffmann's syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

Skeletal muscle pseudohypertrophy in primary amyioidosis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

Myotilinopathy: refining the clinical and myopathological phenotype.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

Autosomal dominant ?spheroid body myopathy?

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760960

Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy

5 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19027924

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Development of a microsatellite genetic map spanning 5q31–q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19027924

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JNS.2008.10.019

1 reference

20 August 2017

1 reference

20 August 2017

1 reference