Current Environment:


The purpose of this study is to identify genes and proteins responsible for neuromuscular disorders by studying genetic material from individuals with neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel the biochemical basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.


Limb-girdle Muscular Dystrophy, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Neuromuscular; Disorder, Hereditary

Recruitment Status


Detailed Description

We are looking to discover new disease genes responsible for the neuromuscular diseases found in our participants and their families. Our research lab has a long history of identifying novel genes responsible for various forms of neuromuscular disease including; DMD gene, the sarcoglycans, obscurin, and filamin. Each discovery has resulted in advances in our ability to develop diagnostic tests which benefit patients and their families by providing accurate diagnosis, presymptomatic and/or prenatal testing. Genotype-phenotype correlation studies have increased our understanding of the natural history of these rare disorders benefiting patients through better prognostic determinations by clinicians. Biochemical and pathological analysis of muscle biopsy samples in patients with known and unknown types of neuromuscular disease has led to new insights into disease pathophysiology, which we hope will aid in finding new treatments.

Eligibility Criteria

The samples used in this study will be derived from individuals at risk for, or suffering from, neuromuscular disease, generally resulting in clinical weakness of one or more muscle groups and their family members.

Inclusion criteria:

having a clinical and/or pathological diagnosis of a muscular dystrophy
being the first degree relative of someone with such a diagnosis
having had a muscle biopsy if diagnosed with a neuromuscular disease
willingness to provide a skin biopsy for research only

Exclusion Criteria:

not having such a diagnosis and not being related to such an individual
not wishing to participate
being incapable of giving consent and not having a legal guardian willing or able to do so



Min Age

1 Week

Max Age

100 Years

Download Date

April 9, 2021

Principal Investigator

Louis Kunkel

Primary Contact Information

Elicia A Estrella, MS, LCGC


Casie Genetti, MS,LCGC


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