Cardiofaciocutaneous Syndrome 1 (CFC1)

H&E stain
Muscle fiber morphology: Normal

Gomori trichrome stain

NADH stain
Internal architecture: Normal

PAS stain
No glycogen storage

ATPase pH 4.3 stain
Type 2C (Intermediate-stained) muscle fibers: Increased frequency

COX stain
Mitochondrial size: Increased

SDH stain
No mitochondrial proliferation

Return to Cardiofaciocutaneous Syndrome
Return to Mitochondrial syndromes
Return to Muscle biopsies