Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1

William J. Groh, Miriam R. Lowe, Zachary Simmons, Deepak Bhakta, Robert M. Pascuzzi

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Myotonic dystrophy type 1 (DM1) is associated with both skeletal and cardiac muscle involvement. The aim of the present study was to determine whether familial clustering is observed in the severity of muscle involvement in DM1. We evaluated 51 sibling groups constituting 112 patients with genetically-verified DM1. The siblings were similar to each other in age, cytosine-thymine-guanine (CTG) repeat length, age at disease onset, muscular impairment rating score, and electrocardiographic markers of cardiac conduction disease. After adjusting for the similarities between siblings in age and CTG repeat length, the siblings remained similar to each other in measures of both skeletal and cardiac muscle involvement. These results suggest that factors other than CTG repeat length play a role in the severity and progression of the degenerative skeletal and cardiac muscle disease in DM1.

Original languageEnglish (US)
Pages (from-to)719-724
Number of pages6
JournalMuscle and Nerve
Volume31
Issue number6
DOIs
StatePublished - Jun 1 2005

Fingerprint

Myotonic Dystrophy
Thymine
Cluster Analysis
Siblings
Cytosine
Guanine
Myocardium
Skeletal Muscle
Heart Diseases
Muscular Diseases
Age of Onset
Muscles

All Science Journal Classification (ASJC) codes

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

Cite this

Groh, William J. ; Lowe, Miriam R. ; Simmons, Zachary ; Bhakta, Deepak ; Pascuzzi, Robert M. / Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1. In: Muscle and Nerve. 2005 ; Vol. 31, No. 6. pp. 719-724.
@article{c18aeeb738ef4bab8832a7e6effe233b,
title = "Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1",
abstract = "Myotonic dystrophy type 1 (DM1) is associated with both skeletal and cardiac muscle involvement. The aim of the present study was to determine whether familial clustering is observed in the severity of muscle involvement in DM1. We evaluated 51 sibling groups constituting 112 patients with genetically-verified DM1. The siblings were similar to each other in age, cytosine-thymine-guanine (CTG) repeat length, age at disease onset, muscular impairment rating score, and electrocardiographic markers of cardiac conduction disease. After adjusting for the similarities between siblings in age and CTG repeat length, the siblings remained similar to each other in measures of both skeletal and cardiac muscle involvement. These results suggest that factors other than CTG repeat length play a role in the severity and progression of the degenerative skeletal and cardiac muscle disease in DM1.",
author = "Groh, {William J.} and Lowe, {Miriam R.} and Zachary Simmons and Deepak Bhakta and Pascuzzi, {Robert M.}",
year = "2005",
month = "6",
day = "1",
doi = "10.1002/mus.20310",
language = "English (US)",
volume = "31",
pages = "719--724",
journal = "Muscle and Nerve",
issn = "0148-639X",
publisher = "John Wiley and Sons Inc.",
number = "6",

}

Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1. / Groh, William J.; Lowe, Miriam R.; Simmons, Zachary; Bhakta, Deepak; Pascuzzi, Robert M.

In: Muscle and Nerve, Vol. 31, No. 6, 01.06.2005, p. 719-724.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1

AU - Groh, William J.

AU - Lowe, Miriam R.

AU - Simmons, Zachary

AU - Bhakta, Deepak

AU - Pascuzzi, Robert M.

PY - 2005/6/1

Y1 - 2005/6/1

N2 - Myotonic dystrophy type 1 (DM1) is associated with both skeletal and cardiac muscle involvement. The aim of the present study was to determine whether familial clustering is observed in the severity of muscle involvement in DM1. We evaluated 51 sibling groups constituting 112 patients with genetically-verified DM1. The siblings were similar to each other in age, cytosine-thymine-guanine (CTG) repeat length, age at disease onset, muscular impairment rating score, and electrocardiographic markers of cardiac conduction disease. After adjusting for the similarities between siblings in age and CTG repeat length, the siblings remained similar to each other in measures of both skeletal and cardiac muscle involvement. These results suggest that factors other than CTG repeat length play a role in the severity and progression of the degenerative skeletal and cardiac muscle disease in DM1.

AB - Myotonic dystrophy type 1 (DM1) is associated with both skeletal and cardiac muscle involvement. The aim of the present study was to determine whether familial clustering is observed in the severity of muscle involvement in DM1. We evaluated 51 sibling groups constituting 112 patients with genetically-verified DM1. The siblings were similar to each other in age, cytosine-thymine-guanine (CTG) repeat length, age at disease onset, muscular impairment rating score, and electrocardiographic markers of cardiac conduction disease. After adjusting for the similarities between siblings in age and CTG repeat length, the siblings remained similar to each other in measures of both skeletal and cardiac muscle involvement. These results suggest that factors other than CTG repeat length play a role in the severity and progression of the degenerative skeletal and cardiac muscle disease in DM1.

UR - http://www.scopus.com/inward/record.url?scp=19544382873&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=19544382873&partnerID=8YFLogxK

U2 - 10.1002/mus.20310

DO - 10.1002/mus.20310

M3 - Article

C2 - 15770673

AN - SCOPUS:19544382873

VL - 31

SP - 719

EP - 724

JO - Muscle and Nerve

JF - Muscle and Nerve

SN - 0148-639X

IS - 6

ER -