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Updated: May 9, 2026

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy

Published on: January 12, 2019

Carrier detection in Duchenne muscular dystrophy using molecular methods.

S M Sakthivel Murugan¹, C Arthi, N Thilothammal

¹Sundaram Medical Foundation, Chennai, India.

The Indian Journal of Medical Research

|July 16, 2013

Summary

Duchenne muscular dystrophy (DMD) carrier analysis is complex. Multiplex ligation-dependent probe amplification (MLPA) effectively identifies carriers when mutations are known, revealing a high de novo mutation rate.

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Area of Science:

Genetics
Molecular Biology
Neuromuscular Disorders

Background:

Duchenne and Becker muscular dystrophies are X-linked disorders caused by mutations in the DMD gene.
Carrier analysis is challenging due to X chromosome heterozygosity.
Previous methods include quantitative multiplex PCR (qmPCR) and Southern blot.

Purpose of the Study:

To determine carrier status in probable carriers from families with identified DMD gene deletions or duplications.
To evaluate the utility of multiplex ligation-dependent probe amplification (MLPA) for DMD carrier analysis.

Main Methods:

150 probable carriers from 110 families with known DMD mutations were analyzed.
Multiplex ligation-dependent probe amplification (MLPA) assessed copy number changes.
Direct sequencing was used for a point mutation case.

Main Results:

49 out of 150 probable carriers were identified as carriers.
The rate of de novo mutations was significantly higher (71%) in sporadic cases compared to hereditary cases (29%).
This high de novo rate was more pronounced in deletion mutations than duplications.

Conclusions:

MLPA is a valuable tool for detecting copy number changes in DMD carriers.
MLPA is recommended as the method of choice for DMD carrier analysis when the causative mutation is identified in the affected child.
Further investigation into unidentified mutations could clarify observed de novo mutation rates.