Results 11 to 20 of about 7,618,843 (150)

Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases. [PDF]

Neurology India, 2004
Congenital fiber type disproportion is a rare type of congenital myopathy which presents as hypotonia, delayed motor milestones and dysmorphic facies. During the past 2 years we received 449 muscle biopsies, of which 4 cases were diagnosed as congenital fiber type disproportion (CFTD).
Sharma Mc, Angela Mercy Ralte, Surinder Kumar Atri, Sheffali Gulati, V. Kalra, C Sarkar   +5 more
core   +5 more sources

Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report

Journal of Biochemical and Clinical Genetics, 2020
Background: Congenital myopathies are a diverse group of diseases that share features from the early onset of symptoms in the first year of life, such as hypotonia, muscle weakness, and developmental delays, and are often associated with respiratory ...
Rana Almutairi, Sara Alrashidi, Muhammed Umair, Maha Alshalan, Lamia Alsubaie, Taghrid Aloraini, Ahmed Al Ahmad, Ahmed Alfares, Fuad Al Mutairi   +8 more
doaj   +2 more sources

A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies [PDF]

Case Reports in Pediatrics, 2013
Congenital fiber type disproportion (CFTD) is a form of congenital myopathy, which is defined by type 1 myofibers that are 12% smaller than type 2 myofibers, as well as a general predominance of type 1 myofibers.
Shigemi Kimura, Shiro Ozasa, Keiko Nomura, Hirofumi Kosuge, Kowasi Yoshioka   +4 more
doaj   +2 more sources

[A case of congenital myopathy with the pathologic transformation from fiber type disproportion to type 1 fiber predominance myopathy].

No to hattatsu = Brain and development, 1998
Many patients with a severe infantile form of congenital myopathies have respiratory and feeding difficulties from early infancy. We experienced a male patient who required an artificial ventilation soon after birth and showed marked generalized muscle weakness involving the facial muscles.
R Shibata, I Kusakawa, Matsuko Ozawa, T Ohya, Ikuya Nonaka   +4 more
openalex   +3 more sources

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden. [PDF]

Ann Neurol
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Michael E, Hedberg-Oldfors C, Tulinius M, Nordström S, Oldfors A, Darin N.   +5 more
europepmc   +2 more sources

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy

Frontiers in Neurology, 2021
Background: Congenital myopathy constitutes a heterogeneous group of orphan diseases that are mainly classified on the basis of muscle biopsy findings. This study aims to estimate the prevalence of congenital myopathy through a systematic review and meta-
Kun Huang, Kun Huang, Fang-Fang Bi, Huan Yang   +3 more
doaj   +1 more source

Congenital myopathies: A clinicopathological study of 10 cases in a tertiary care hospital of North India

Journal of Pediatric Neurosciences, 2021
Objective: Congenital myopathies (CMs) are rare neuromuscular disorders. Through this article, authors want to present a clinicopathological study of 10 cases of CM. Materials and Methods: The study included patients with histopathologically confirmed CM
Siddharth Maheshwari, Ishita Pant, Kiran Bala, Vibhor Paradasani   +3 more
doaj   +1 more source

The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications

Genes and Diseases, 2021
According to existing reports, mutations in the slow tropomyosin gene (TPM3) may lead to congenital fiber-type disproportion (CFTD), nemaline myopathy (NM) and cap myopathy (CD).
Haoyue Xu, Hang Liu, Tao Chen, Bo Song, Jin Zhu, Xing Liu, Ming Li, Cong Luo   +7 more
doaj   +1 more source

Myopathy with Congenital Fiber Type Disproportion (CFTD) -A case report- [PDF]

, 2002
Congenital fiber type disproportion (CFTD) has been described as a form of congenital myopathy characterized by the smallness and marked predominance of type I fibers in a muscle biopsy.
Chang-Il Park, Sung‐Rae Cho, Sang-Il Na, Ja-Young Moon, Tai-Seung Kim, Beom-Jin Lim   +5 more
openalex   +2 more sources

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age. [PDF]

Eur J Neurol
ABSTRACT Background Congenital myopathies (CMyo) are a group of rare inherited muscle disorders classified to date according to myopathological features on muscle biopsy. They usually present with an early onset, with a slow or non‐progressive muscle weakness.
Bisciglia M, Severa G, Romero NB, Fardeau M, Rendu J, Stojkovic T, Laforêt P, Eymard B, Ferreiro A, Malfatti E, Béhin A.   +10 more
europepmc   +2 more sources