Needle muscle biopsy for carrier detection in Duchenne muscular dystrophy

1981 ◽  
Vol 49 (2) ◽  
pp. 305-324 ◽  
Author(s):  
C.A. Maunder-Sewry ◽  
V. Dubowitz
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Carrier Detection

scholarly journals Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy

2016 ◽  
Vol 17 (8) ◽  
pp. 1334 ◽  
Author(s):  
Mónica Anaya-Segura ◽  
Héctor Rangel-Villalobos ◽  
Gabriela Martínez-Cortés ◽  
Benjamín Gómez-Díaz ◽  
Ramón Coral-Vázquez ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Serum Levels ◽  
Carrier Detection

Malignant Hyperthermia in a Child with Duchenne Muscular Dystrophy

PEDIATRICS ◽  
1983 ◽  
Vol 71 (1) ◽  
pp. 118-119
Author(s):  
HOWARD M. KELFER ◽  
WILLIAM D. SINGER ◽  
ROBERT N. REYNOLDS
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Side Effects ◽  
Muscular Dystrophy ◽  
Malignant Hyperthermia ◽  
Muscle Biopsy ◽  
Biopsy Specimen ◽  
Laboratory Findings ◽  
Anesthetic Agents ◽  
In Vitro Response

Patients with Duchenne muscular dystrophy (DMD) are susceptible to numerous adverse intraoperative and postoperative side effects of anesthetic agents. These include: hyperthermia and hyperkalemia,1,2 systemic acidosis,3 cardiac abnormalities (tachycardia, arrhythmia, arrest),2-5 rhabdomyolysis,2-6 as well as death.2,5 These clinical and laboratory findings are similar to those associated with malignant hyperthermia (MH).7,8 Until this time no one has confirmed the association of MH, as reflected by these clinical phenomena, in a patient with DMD. We present a patient who manifested many features of MH immediately following confirmatory muscle biopsy for DMD under general anesthesia. In vitro response to testing of a muscle biopsy specimen was consistent with a diagnosis of malignant hyperthermia.

Quantitative EMG and histological carrier detection of duchenne muscular dystrophy

1977 ◽  
Vol 216 (4) ◽  
pp. 235-249 ◽  
Author(s):  
G. Scarlato ◽  
G. Valli ◽  
G. Meola ◽  
L. Carenini
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Carrier Detection ◽  
Quantitative Emg

DUCHENNE MUSCULAR DYSTROPHY: CARRIER DETECTION BY ULTRASOUND AND COMPUTERISED TOMOGRAPHY

The Lancet ◽  
1984 ◽  
Vol 323 (8368) ◽  
pp. 111 ◽  
Author(s):  
Hans-Dieter Rott ◽  
Margret Santellani ◽  
FritzHelmut Breimesser
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Carrier Detection ◽  
Computerised Tomography

PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs

The Lancet ◽  
1985 ◽  
Vol 325 (8430) ◽  
pp. 655-658 ◽  
Author(s):  
E Bakker ◽  
N Goor ◽  
K Wrogemann ◽  
L.M Kunkel ◽  
W.A Fenton ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Carrier Detection

Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy

1999 ◽  
Vol 19 (10) ◽  
pp. 921-926 ◽  
Author(s):  
Yoram Nevo ◽  
Ruth Shomrat ◽  
Yuval Yaron ◽  
Avi Orr-Urtreger ◽  
Shaul Harel ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Diagnostic Tool ◽  
Fetal Muscle
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