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Myelin tomacula

Known as: Tomacula 
The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage). [HPO:jbeats, pmid:10727485]
National Institutes of Health

Papers overview

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Review
2011
Review
2011
The phenotype of the Gly94fsX222 PMP22 insertion
Point mutations in PMP22 are relatively rare and the phenotype may vary from mild hereditary neuropathy with liability to… 
2006
2006
Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy
2004
2004
Focal myelin thickenings in a peripheral neuropathy associated with IgM monoclonal gammopathy
SummaryNerve biopsy in peripheral neuropathies associated with an IgM monoclonal gammopathy may occasionally display focal myelin… 
2002
2002
Tomacula in MAG‐deficient mice
Abstract  The pathogenesis of tomacula in mice with a null mutation of the myelin‐associated glycoprotein (MAG) gene is not well… 
2001
2001
Focal myelin swellings and tomacula in anti‐MAG IgM paraproteinaemic neuropathy: Novel teased nerve fiber studies
Abstract  Focal myelin swellings and tomacula in teased nerve fibers from a case of IgM anti‐myelin‐associated glycoprotein (MAG… 
Review
2000
Review
2000
Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies
OBJECTIVES To describe the neuropathological features of clinical syndromes associated with tomacula or focal myelin swellings in… 
2000
2000
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero
Abstract Charcot-Marie-Tooth disease type 1B (CMT1B) is a demyelinating neuropathy caused by mutations in the myelin protein zero… 
1999
1999
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22
Background: The peripheral myelin protein-22 (PMP22) gene has four transmembrane domains, two extracellular loops, and a short… 
1997
1997
Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation
1997
1997
A Transgenic Mouse Model for Human Hereditary Neuropathy with Liability to Pressure Palsies
Mutations in the gene encoding peripheral myelin protein 22 (PMP22) account for several inherited peripheral neuropathies in… 
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