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Table 2 Summary of clinical diagnoses and pathological findings of patient samples studied for alterations in DMN.

From: Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3

Clinical Diagnosis

Description

# of samples

Congenital Myopathy

Nemaline Myopathy

50

 

Multicore/minicore Disease

6

 

Myotubular Myopathy

2

 

Spheroid Body Myopathy

1

 

Desmuslin accumulation

2

 

Undefined

2

Muscular Dystrophy

Limb-Girdle MD

4

 

Undefined

4

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BMC Genomic Data

ISSN: 2730-6844

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