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Descriptor English: Myopathies, Nemaline
Descriptor Spanish: Miopatías Nemalínicas
Descriptor miopatías nemalínicas
Entry term(s) miopatía de bastoncillos
miopatía de bastoncitos
miopatía de bastones
miopatía nemalina
miopatía nemalínica
Scope note: Grupo de afecciones miopáticas congénitas hereditarias que se caracterizan clínicamente por debilidad, hipotonía e hipoplasia prominente de los músculos proximales entre los que se incluyen los de la cara. La biopsia muscular revela abundantes estructuras en forma de bastoncillos bajo la membrana plasmática de la fibra muscular. Este trastorno es genéticamente heterogéneo y puede presentarse de forma ocasional en adultos.
Descriptor Portuguese: Miopatias da Nemalina
Descriptor French: Myopathies némaline
Entry term(s): Adult Onset Nemaline Myopathy
Autosomal Dominant Nemaline Myopathy
Autosomal Recessive Nemaline Myopathy
Childhood Onset Nemaline Myopathy
Late Onset Nemaline Myopathy
Myopathies, Rod
Myopathies, Rod-Body
Myopathy, Nemaline
Myopathy, Rod
Myopathy, Rod Body
Myopathy, Rod-Body
Nemaline Body Disease
Nemaline Myopathies
Nemaline Myopathy
Nemaline Myopathy, Adult Onset
Nemaline Myopathy, Autosomal Dominant
Nemaline Myopathy, Autosomal Recessive
Nemaline Myopathy, Childhood Onset
Nemaline Myopathy, Late Onset
Nemaline Rod Disease
Rod Body Disease
Rod Body Myopathy
Rod Myopathies
Rod Myopathy
Rod-Body Myopathies
Rod-Body Myopathy
Tree number(s): C05.651.575.290
C10.668.491.550.290
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D017696
Scope note: A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Muscle Hypotonia (1967-1993)
Muscular Diseases (1966-1993)
Neuromuscular Diseases (1971-1993)
Public MeSH Note: 2000; see NEMALINE MYOPATHY 1994-1999
History Note: 2000(1994)
DeCS ID: 31278
Unique ID: D017696
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1994/01/01
Date of Entry: 1999/11/08
Revision Date: 2013/07/08
Myopathies, Nemaline - Preferred
Concept UI M0026760
Scope note A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
Preferred term Myopathies, Nemaline
Entry term(s) Myopathies, Rod
Myopathies, Rod-Body
Myopathy, Nemaline
Myopathy, Rod
Myopathy, Rod Body
Myopathy, Rod-Body
Nemaline Body Disease
Nemaline Myopathies
Nemaline Myopathy
Nemaline Rod Disease
Rod Body Disease
Rod Body Myopathy
Rod Myopathies
Rod Myopathy
Rod-Body Myopathies
Rod-Body Myopathy
Nemaline Myopathy, Autosomal Dominant - Narrower
Concept UI M0335627
Preferred term Nemaline Myopathy, Autosomal Dominant
Entry term(s) Autosomal Dominant Nemaline Myopathy
Nemaline Myopathy, Childhood Onset - Narrower
Concept UI M0335625
Preferred term Nemaline Myopathy, Childhood Onset
Entry term(s) Childhood Onset Nemaline Myopathy
Nemaline Myopathy, Late Onset - Narrower
Concept UI M0335626
Preferred term Nemaline Myopathy, Late Onset
Entry term(s) Late Onset Nemaline Myopathy
Adult Onset Nemaline Myopathy - Narrower
Concept UI M0335629
Preferred term Adult Onset Nemaline Myopathy
Entry term(s) Nemaline Myopathy, Adult Onset
Nemaline Myopathy, Autosomal Recessive - Narrower
Concept UI M0335628
Preferred term Nemaline Myopathy, Autosomal Recessive
Entry term(s) Autosomal Recessive Nemaline Myopathy



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