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Table 8 Morphometric muscle biopsy values (Bernier et al., 2002; Clarke 2011; Dubowitz et al., 2020)

From: Muscle biopsy essential diagnostic advice for pathologists

Fiber size disproportion quotient

\( \frac{\left(\mathbf{Type}\ \mathbf{2}\mathbf{D}-\mathbf{Type}\ \mathbf{1}\mathbf{D}\right)}{\mathbf{Type}\ \mathbf{2}\mathbf{D}} \)

Dubowitz criteria at least 25%

Clarke criteria at least 35 to 40%

Mean type 2 fiber diameter = Type 2D

Mean type 1 fiber diameter = Type 1D

Mitochondrial disorder diagnostic criteria

Below 16 yo

More than 2% subsarcolemmal accumulation

minor criteria

Below 30 yo

Any ragged red fiber

minor criteria

Between 30 and 50 yo

1–2% ragged red fibers

minor criteria

Any age

More than 2% ragged red fibers

major criteria

Below 50 yo

More than 2% COX negative fibers

major criteria

Above 50 yo

More than 5% COX negative fibers

major criteria

  1. Fiber size disproportion quotient: Mean type 2 fiber (Type 2 D) diameter less mean type 1 fiber (Type 1 D) diameter; the difference is divided by the mean type 2 fiber diameter (Type 2 D). Fiber size disproportion is observed in all Congenital Fiber Type Disproportion patients, but many other conditions may present fiber size disproportion (nemaline myopathy, Steinert myotonic dystrophy, Spinal Muscular Atrophy) (Clarke 2011); yo: years old; subsarcolemal accumulations: mitochondrial subsarcolemal accumulations on SDH reaction. Ragged-red fibers are usually quantified as ragged-red equivalent or ragged-blue fibers on SDH reaction characterized by marked subsarcolemal and intrasarcoplasmic mitochondrial proliferation