Table 3. [Serum CK Concentration and Muscle...]. - GeneReviews®

Disorder	Serum CK Concentration ¹	Muscle Biopsy
Defects of structural protein
Laminin alpha-2 deficiency (MDC1A)	Variable CK from mildly elevated to markedly elevated (before muscle wasting is severe)	Neonatal: myopathic or dystrophic w/or w/out inflammatory changes	Merosin: partial or total deficiency ² Laminin alpha-5: overexpression
End stage: dystrophic changes
Collagen VI-deficient CMD	Normal or mildly elevated (~2-3x normal)	Fiber size variation	Collagen VI: Variable reduction in muscle Abnormal secretion in fibroblast culture Deficiency difficult to detect if partial ³
Variable necrotic or regenerative fibers
Variable endomysial fibrosis
Defects of glycosylation
Dystroglycanopathies	Elevated: 2-15x normal	Myopathic or dystrophic	Merosin: normal or reduced Glycosylated alpha dystroglycan: deficient Beta dystroglycan: normal
Defects of proteins of the endoplasmic reticulum
SELENON (SEPN1)-related CMD	Normal	Variable fiber size	Merosin & collagen VI: normal
Occasional necrotic fibers
Minimally increased endomysial connective tissue
Defects of nuclear envelope proteins
L-CMD	2-5x normal	Dystrophic changes (deltoid> quadriceps)	Merosin: normal Alpha-dystroglycan: possible secondary abnormal expression
Nonspecific myopathic changes (quadriceps)
Markedly atrophic fibers, most often type 1, occasional positive inflammatory markers

Disorder

Serum CK
Concentration ¹

Muscle Biopsy

Histology

Immunohistochemistry

Defects of structural protein

Laminin alpha-2 deficiency (MDC1A)

Variable CK from mildly elevated to markedly elevated (before muscle wasting is severe)

Neonatal: myopathic or dystrophic w/or w/out inflammatory changes

Merosin: partial or total deficiency ²
Laminin alpha-5: overexpression

End stage: dystrophic changes

Collagen VI-deficient CMD

Normal or mildly elevated (~2-3x normal)

Fiber size variation

Collagen VI:

Variable reduction in muscle
Abnormal secretion in fibroblast culture
Deficiency difficult to detect if partial ³

Variable necrotic or regenerative fibers

Variable endomysial fibrosis

Defects of glycosylation

Dystroglycanopathies

Elevated: 2-15x normal

Myopathic or dystrophic

Merosin: normal or reduced
Glycosylated alpha dystroglycan: deficient
Beta dystroglycan: normal

Defects of proteins of the endoplasmic reticulum

SELENON (SEPN1)-related CMD

Normal

Variable fiber size

Merosin & collagen VI: normal

Occasional necrotic fibers

Minimally increased endomysial connective tissue

Defects of nuclear envelope proteins

L-CMD

2-5x normal

Dystrophic changes (deltoid> quadriceps)

Merosin: normal
Alpha-dystroglycan: possible secondary abnormal expression

Nonspecific myopathic changes (quadriceps)

Markedly atrophic fibers, most often type 1, occasional positive inflammatory markers

From: Congenital Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

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