May 4, 2004Neuropathology and Applied Neurobiology

Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions

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Why the study?

Does immunolabelling with antibodies to nNOS improve the diagnosis of Becker muscular dystrophy in patients with equivocal dystrophin labelling?

Structured PICO

Does immunolabelling with antibodies to nNOS improve the diagnosis of Becker muscular dystrophy in patients with equivocal dystrophin labelling?

Population

3 cases presenting with mild or no muscle weakness, elevated serum creatine kinase activity, and dystrophin immunolabelling indistinguishable from normal.

Intervention

Immunolabelling with antibodies to neuronal nitric oxide synthase (nNOS)

Outcome

Absence of sarcolemmal nNOS as a marker for Becker muscular dystrophy with rod domain deletionssurrogate

Absence of sarcolemmal nNOS can serve as a sensitive diagnostic marker for Becker muscular dystrophy in cases where dystrophin immunolabelling is equivocal.

Limitations

Immaturity of fibres needs to be taken into account, especially in neonates, as nNOS appears to be developmentally regulated and often absent from the sarcolemma of immature fibres.

Discussion

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Implication

nNOS immunolabelling may aid BMD diagnosis with equivocal dystrophin; leaves open validation in larger cohorts before practice change.

Cite This Study

Torelli et al. (2004) studied this question.

synapsesocial.com/papers/6a702b6675498292b7098ce5 https://doi.org/10.1111/j.1365-2990.2004.00561.x

View Full Paper

Ask AI

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Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions

Structured PICO

Limitations

Discussion

Implication

Cite This Study

Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions

Structured PICO

Limitations

Discussion

Implication

Cite This Study

Also Consider

Also Consider